Hedgehog Signaling Pathway Database
 
Human Mutations - sil
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
          A > V 86 N   DBSNP:rs3125630      
          H > R 984 N   DBSNP:rs13376679      
          A > V 1145 N   DBSNP:rs3766317      
          S > S 484 S   DBSNP:rs10789505      
          P > P 1161 S   DBSNP:rs2758735      
intronic 47430055 C T forward           DBSNP:rs6677819      
intronic 47430338 C T reverse           DBSNP:rs1028647      
intronic 47430378 C T reverse           DBSNP:rs1028646      
intronic 47430833 C T forward           DBSNP:rs12137574      
intronic 47431031 A C forward           DBSNP:rs11211489      
intronic 47431128 C T forward           DBSNP:rs11211490      
intronic 47431742 A G forward           DBSNP:rs11211492      
intronic 47431842 C T forward           DBSNP:rs12061032      
intronic 47432975 A G forward           DBSNP:rs11211493      
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
intronic 47433007 A T forward           DBSNP:rs6674561      
intronic 47433078 C T forward           DBSNP:rs12063623      
intronic 47433156 C T forward           DBSNP:rs2494247      
intronic 47433198 A G forward           DBSNP:rs11211495      
intronic 47433344 C T forward           DBSNP:rs12140580      
intronic 47433876 C T forward           DBSNP:rs2821087      
intronic 47434276 C T reverse           DBSNP:rs2742099      
intronic 47435218 A T forward           DBSNP:rs12742959      
intronic 47435219 G T forward           DBSNP:rs12742960      
intronic 47435844 C G forward           DBSNP:rs12123358      
intronic 47436186 C T forward           DBSNP:rs6588095      
intronic 47436199 A T forward           DBSNP:rs2821088      
intronic 47436296 C T forward           DBSNP:rs6682899      
intronic 47436420 C T forward           DBSNP:rs2821089      
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
intronic 47436885 A G forward           DBSNP:rs6688323      
intronic 47436968 A G forward           DBSNP:rs2405786      
intronic 47437027 A G forward           DBSNP:rs12728400      
intronic 47437171 C T forward           DBSNP:rs12029934      
intronic 47439035 C G forward           DBSNP:rs12143808      
intronic 47439455 A T reverse           DBSNP:rs1967758      
intronic 47439967 C G forward           DBSNP:rs13374382      
intronic 47441054 G T forward           DBSNP:rs2821092      
intronic 47441905 C T forward           DBSNP:rs2821093      
intronic 47442204 A C forward           DBSNP:rs11589932      
intronic 47442342 A G forward           DBSNP:rs11211496      
intronic 47442796 C T forward           DBSNP:rs12069506      
intronic 47442942 A C forward           DBSNP:rs6588124      
intronic 47443005 A G forward           DBSNP:rs10890474      
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
intronic 47443106 A G forward           DBSNP:rs11211498      
intronic 47443139 A G forward           DBSNP:rs11211499      
intronic 47443476 A C forward           DBSNP:rs12754065      
intronic 47443696 C T reverse           DBSNP:rs2742081      
intronic 47444154 C G reverse           DBSNP:rs2742080      
intronic 47444398 G T forward           DBSNP:rs11211500      
intronic 47444756 A T forward           DBSNP:rs13373807      
intronic 47445322 A G forward           DBSNP:rs12743643      
intronic 47445471 A G forward           DBSNP:rs2821094      
intronic 47445583 A G forward           DBSNP:rs2821095      
intronic 47446168 C T forward           DBSNP:rs9436749      
intronic 47446194 C T forward           DBSNP:rs2897237      
intronic 47446264 C T forward           DBSNP:rs6588148      
intronic 47446405 A G forward           DBSNP:rs2897238      
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
intronic 47446481 A T forward           DBSNP:rs4375315      
intronic 47447300 A G reverse           DBSNP:rs2742104      
intronic 47447933 A T forward           DBSNP:rs12402260      
intronic 47447947 A G reverse           DBSNP:rs2981632      
intronic 47447949 C T forward           DBSNP:rs12756684      
intronic 47448439 C T reverse           DBSNP:rs2742103      
intronic 47448467 C T forward           DBSNP:rs7512955      
intronic 47448616 C T forward           DBSNP:rs12723234      
intronic 47448759 C G forward           DBSNP:rs12723548      
intronic 47448760 C T forward           DBSNP:rs12747313      
intronic 47449009 A G reverse           DBSNP:rs2758744      
intronic 47449238 A G forward           DBSNP:rs12094830      
intronic 47449505 A C forward           DBSNP:rs12409300      
intronic 47449950 A G reverse           DBSNP:rs2758741      
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
intronic 47450763 A G forward           DBSNP:rs12045207      
intronic 47450977 C T forward           DBSNP:rs2405787      
intronic 47451929 C T reverse           DBSNP:rs2981631      
intronic 47451941 A G reverse           DBSNP:rs2981630      
intronic 47452147 C T forward           DBSNP:rs11211501      
intronic 47452305 C T reverse           DBSNP:rs1963139      
intronic 47452395 A T reverse           DBSNP:rs1022460      
intronic 47452413 C T reverse           DBSNP:rs1022459      
intronic 47452458 A G reverse           DBSNP:rs1022458      
intronic 47452768 A G reverse           DBSNP:rs2742101      
intronic 47453356 A G forward           DBSNP:rs12118205      
intronic 47453368 C G forward           DBSNP:rs12118206      
intronic 47453612 A C forward           DBSNP:rs7354822      
intronic 47453707 C T forward           DBSNP:rs12125992      
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
intronic 47453822 C T reverse           DBSNP:rs2984617      
intronic 47453941 A G forward           DBSNP:rs12732410      
intronic 47453966 A G reverse           DBSNP:rs2475760      
intronic 47453967 A T reverse           DBSNP:rs2472727      
intronic 47453973 A G reverse           DBSNP:rs2472726      
intronic 47453999 A C reverse           DBSNP:rs2472725      
intronic 47454281 C T forward           DBSNP:rs12738065      
intronic 47454436 C T reverse           DBSNP:rs2821097      
intronic 47454543 A G forward           DBSNP:rs12024111      
intronic 47454583 A G forward           DBSNP:rs12024150      
intronic 47454746 A G reverse           DBSNP:rs2821096      
intronic 47454758 A G forward           DBSNP:rs12024218      
intronic 47454861 A G forward           DBSNP:rs12024244      
intronic 47454909 A G forward           DBSNP:rs12024246      
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
intronic 47455510 C T forward           DBSNP:rs6588196      
intronic 47455994 G T forward           DBSNP:rs6671649      
intronic 47456233 A G forward           DBSNP:rs10157883      
intronic 47456434 A G forward           DBSNP:rs11211504      
intronic 47456477 A G forward           DBSNP:rs10890475      
intronic 47456514 A T forward           DBSNP:rs3923691      
intronic 47456871 A C forward           DBSNP:rs12405544      
intronic 47456993 A T forward           DBSNP:rs12061748      
intronic 47457526 C T forward           DBSNP:rs7532148      
intronic 47459013 A G forward           DBSNP:rs11211505      
intronic 47459110 C T forward           DBSNP:rs12145974      
intronic 47459465 A G forward           DBSNP:rs3122619      
intronic 47460584 A G forward           DBSNP:rs12057442      
intronic 47460872 C G forward           DBSNP:rs11577960      
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
intronic 47461421 C T forward           DBSNP:rs3125633      
intronic 47462288 A G forward           DBSNP:rs3125636      
intronic 47463032 A T forward           DBSNP:rs11578112      
intronic 47463611 A G forward           DBSNP:rs13374419      
intronic 47463835 A G forward           DBSNP:rs3125638      
intronic 47464084 A T forward           DBSNP:rs2011460      
intronic 47464084 A T forward           DBSNP:rs2011460      
intronic 47464120 A G forward           DBSNP:rs7548099      
intronic 47464527 C T forward           DBSNP:rs3125641      
intronic 47464620 C G forward           DBSNP:rs11580114      
intronic 47464752 A C forward           DBSNP:rs11578360      
intronic 47464777 A G forward           DBSNP:rs11580148      
intronic 47465016 C T forward           DBSNP:rs3125644      
intronic 47465425 A G forward           DBSNP:rs12125261      
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
intronic 47466605 A T forward           DBSNP:rs3122613      
intronic 47466765 A C forward           DBSNP:rs11211506      
intronic 47466772 A C forward           DBSNP:rs9436785      
intronic 47467336 C T forward           DBSNP:rs17103075      
intronic 47467596 C T forward           DBSNP:rs12039169      
intronic 47467647 A C forward           DBSNP:rs6674285      
intronic 47467760 A G forward           DBSNP:rs11802603      
intronic 47468072 G T forward           DBSNP:rs3125624      
intronic 47468914 A G forward           DBSNP:rs3125625      
intronic 47468938 A G forward           DBSNP:rs12729251      
intronic 47469844 A G forward           DBSNP:rs3125626      
intronic 47469991 A G forward           DBSNP:rs11211507      
intronic 47470218 A T forward           DBSNP:rs3125627      
intronic 47472079 C T forward           DBSNP:rs12184297      
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
intronic 47472391 A T forward           DBSNP:rs12184262      
intronic 47472989 C T forward           DBSNP:rs11211508      
intronic 47473911 A G forward           DBSNP:rs3125628      
intronic 47475227 C T forward           DBSNP:rs11587014      
intronic 47475294 C G forward           DBSNP:rs11583162      
intronic 47475353 C T forward           DBSNP:rs9436394      
intronic 47475471 A G forward           DBSNP:rs11583197      
intronic 47475733 C T forward           DBSNP:rs11587107      
intronic 47476163 C T forward           DBSNP:rs12042624      
intronic 47476826 A G forward           DBSNP:rs12743877      
intronic 47477409 C T forward           DBSNP:rs17418545      
intronic 47477450 A C forward           DBSNP:rs17097016      
intronic 47477510 C T forward           DBSNP:rs9436838      
intronic 47478167 C T forward           DBSNP:rs3122614      
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
intronic 47478254 A G forward           DBSNP:rs12406951      
intronic 47478624 A G forward           DBSNP:rs9436412      
intronic 47478667 C T forward           DBSNP:rs12141060      
intronic 47478963 C T forward           DBSNP:rs6697248      
intronic 47479161 A C forward           DBSNP:rs6689687      
intronic 47480093 A C forward           DBSNP:rs3122606      
intronic 47480715 G T forward           DBSNP:rs11211509      
intronic 47480763 C T forward           DBSNP:rs6703956      
intronic 47480940 C T forward           DBSNP:rs17103087      
intronic 47481497 C T forward           DBSNP:rs12032890      
intronic 47482043 A T forward           DBSNP:rs7511699      
intronic 47482283 A G forward           DBSNP:rs12131978      
intronic 47482461 A C forward           DBSNP:rs3122615      
intronic 47482486 C T forward           DBSNP:rs3122616      
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
intronic 47482826 C T forward           DBSNP:rs12129594      
intronic 47482829 A T forward           DBSNP:rs9436428      
intronic 47483007 A G forward           DBSNP:rs12132909      
intronic 47483585 A G forward           DBSNP:rs7545862      
intronic 47483882 C T forward           DBSNP:rs9436429      
intronic 47484242 A G forward           DBSNP:rs3122607      
intronic 47484673 A G forward           DBSNP:rs11211510      
intronic 47484736 C G forward           DBSNP:rs11211511      
intronic 47484769 C G forward           DBSNP:rs12081837      
intronic 47486068 C T forward           DBSNP:rs12047319      
intronic 47486072 A G forward           DBSNP:rs9436871      
intronic 47486286 A G forward           DBSNP:rs10890476      
intronic 47486705 C T forward           DBSNP:rs12143892      
intronic 47486757 A T forward           DBSNP:rs12132928      
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
intronic 47487148 A C forward           DBSNP:rs4147193      
intronic 47487197 C T forward           DBSNP:rs12410850      
intronic 47487667 G T forward           DBSNP:rs17103095      
untranslated 47428251 C T forward           DBSNP:rs11211487      
untranslated 47428512 A G forward           DBSNP:rs11211488      
untranslated 47488365 A C forward           DBSNP:rs12407463      
untranslated 47489338 A T forward           DBSNP:rs3122611      
untranslated 47489532 A G forward           DBSNP:rs3125631      
untranslated 47489904 C T forward           DBSNP:rs11211512      
untranslated 47490286 A G forward           DBSNP:rs6702191      
untranslated 47490540 C T forward           DBSNP:rs6671254      
untranslated 47491713 C T forward           DBSNP:rs13376465      

Last updated 28-Aug-2006

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