Hedgehog Signaling Pathway Database
 
Human Mutations - hhip
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
          I > I 686 S   DBSNP:rs11727676      
intronic 145925957 C T forward           DBSNP:rs7689420      
intronic 145927297 C T forward           DBSNP:rs13146972      
intronic 145927437 A C forward           DBSNP:rs1109181      
intronic 145929299 A C forward           DBSNP:rs13136840      
intronic 145929651 C T forward           DBSNP:rs7675744      
intronic 145930206 A T forward           DBSNP:rs7676399      
intronic 145930542 A G forward           DBSNP:rs17019584      
intronic 145931801 C T reverse           DBSNP:rs1844428      
intronic 145931844 A C reverse           DBSNP:rs1489758      
intronic 145932440 A G forward           DBSNP:rs2668807      
intronic 145932449 C T reverse           DBSNP:rs1812175      
intronic 145932784 C G forward           DBSNP:rs13150962      
intronic 145933293 G T forward           DBSNP:rs17019593      
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 145934163 C T reverse           DBSNP:rs2220514      
intronic 145934261 A G reverse           DBSNP:rs2635680      
intronic 145934975 C T reverse           DBSNP:rs2035742      
intronic 145935241 A G reverse           DBSNP:rs2035900      
intronic 145936272 C T forward           DBSNP:rs17720753      
intronic 145936418 A G forward           DBSNP:rs16998639      
intronic 145937195 C T forward           DBSNP:rs7680782      
intronic 145937512 A G forward           DBSNP:rs6537301      
intronic 145937895 A C forward           DBSNP:rs1355601      
intronic 145937973 C T forward           DBSNP:rs17019597      
intronic 145938190 A C forward           DBSNP:rs1355602      
intronic 145938664 C T reverse           DBSNP:rs2307057      
intronic 145939201 C T forward           DBSNP:rs1387631      
intronic 145939505 C T forward           DBSNP:rs17019606      
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 145940425 C T forward           DBSNP:rs13145247      
intronic 145940871 A G forward           DBSNP:rs17019609      
intronic 145941703 G T forward           DBSNP:rs17019610      
intronic 145941812 G T forward           DBSNP:rs7687599      
intronic 145942499 G T forward           DBSNP:rs2635681      
intronic 145942552 G T forward           DBSNP:rs2635682      
intronic 145942558 G T forward           DBSNP:rs2635683      
intronic 145942959 A T forward           DBSNP:rs6852346      
intronic 145943126 A G forward           DBSNP:rs6825848      
intronic 145943648 C T forward           DBSNP:rs12501043      
intronic 145943720 A T forward           DBSNP:rs9999235      
intronic 145944064 C T reverse           DBSNP:rs982903      
intronic 145944403 G T forward           DBSNP:rs12642171      
intronic 145944505 C T reverse           DBSNP:rs982902      
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 145947449 A C forward           DBSNP:rs6537303      
intronic 145947610 C T forward           DBSNP:rs6537304      
intronic 145948050 A T forward           DBSNP:rs4834989      
intronic 145948538 A G forward           DBSNP:rs7340949      
intronic 145948666 A G forward           DBSNP:rs6537305      
intronic 145948804 G T forward           DBSNP:rs7340811      
intronic 145948816 A G forward           DBSNP:rs6537306      
intronic 145949031 A C forward           DBSNP:rs6832061      
intronic 145949545 A G forward           DBSNP:rs13102396      
intronic 145950291 A G forward           DBSNP:rs17777628      
intronic 145950633 A G reverse           DBSNP:rs1844429      
intronic 145951279 C G forward           DBSNP:rs11938839      
intronic 145951865 C G forward           DBSNP:rs7689743      
intronic 145951954 C T forward           DBSNP:rs7694428      
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 145955364 C T reverse           DBSNP:rs2055059      
intronic 145955920 C T forward           DBSNP:rs6826476      
intronic 145957139 C G forward           DBSNP:rs11946517      
intronic 145957513 C T reverse           DBSNP:rs2131354      
intronic 145958797 A T forward           DBSNP:rs17019625      
intronic 145959468 A G forward           DBSNP:rs6537307      
intronic 145959729 G T reverse           DBSNP:rs1472172      
intronic 145960102 A G reverse           DBSNP:rs2639583      
intronic 145960432 A G forward           DBSNP:rs7665268      
intronic 145961407 C T forward           DBSNP:rs949567      
intronic 145962458 G T forward           DBSNP:rs6537308      
intronic 145962630 C T reverse           DBSNP:rs2575580      
intronic 145962638 C T forward           DBSNP:rs6819412      
intronic 145962680 C T forward           DBSNP:rs6537309      
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 145963626 C T forward           DBSNP:rs13106160      
intronic 145963756 A C forward           DBSNP:rs13133347      
intronic 145963761 A T forward           DBSNP:rs13133357      
intronic 145963804 A C forward           DBSNP:rs13133380      
intronic 145963824 A C forward           DBSNP:rs13133398      
intronic 145963827 C T forward           DBSNP:rs13106604      
intronic 145963842 C G forward           DBSNP:rs13106610      
intronic 145963878 C T forward           DBSNP:rs13106785      
intronic 145963885 C T forward           DBSNP:rs13106794      
intronic 145963927 A T forward           DBSNP:rs13133624      
intronic 145963940 A G forward           DBSNP:rs13133637      
intronic 145963946 C T forward           DBSNP:rs13106846      
intronic 145963949 A T forward           DBSNP:rs13139184      
intronic 145965451 C T forward           DBSNP:rs7699480      
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 145966181 C T forward           DBSNP:rs7688093      
intronic 145968427 C G forward           DBSNP:rs11726799      
intronic 145968631 C T forward           DBSNP:rs6824088      
intronic 145970156 A C forward           DBSNP:rs12507436      
intronic 145970157 A T forward           DBSNP:rs12511407      
intronic 145971156 A G forward           DBSNP:rs13146352      
intronic 145971325 C T forward           DBSNP:rs17721599      
intronic 145971412 A G forward           DBSNP:rs6812830      
intronic 145971562 A C forward           DBSNP:rs17019626      
intronic 145971940 C T forward           DBSNP:rs6850355      
intronic 145972589 A G forward           DBSNP:rs13131837      
intronic 145974058 C T forward           DBSNP:rs17019628      
intronic 145975353 A G forward           DBSNP:rs7439494      
intronic 145975551 C T forward           DBSNP:rs1907867      
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 145976851 C T forward           DBSNP:rs17019632      
intronic 145977018 C T forward           DBSNP:rs1492819      
intronic 145978795 C G forward           DBSNP:rs12501764      
intronic 145979060 C G forward           DBSNP:rs9308183      
intronic 145979535 A G forward           DBSNP:rs12054600      
intronic 145980035 G T forward           DBSNP:rs17019634      
intronic 145980256 C T forward           DBSNP:rs12502033      
intronic 145980712 A G forward           DBSNP:rs6838704      
intronic 145980766 C T forward           DBSNP:rs6822018      
intronic 145983335 C T forward           DBSNP:rs7654947      
intronic 145983556 A G forward           DBSNP:rs7679514      
intronic 145983701 C G forward           DBSNP:rs6812389      
intronic 145984019 C G forward           DBSNP:rs6817771      
intronic 145984617 A G forward           DBSNP:rs6817556      
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 145985010 G T forward           DBSNP:rs3733423      
intronic 145985063 A G forward           DBSNP:rs3733424      
intronic 145985188 C T forward           DBSNP:rs7696711      
intronic 145986333 C T forward           DBSNP:rs17019647      
intronic 145986396 A C forward           DBSNP:rs4512015      
intronic 145987235 A T forward           DBSNP:rs2254637      
intronic 145987554 C T forward           DBSNP:rs7664306      
intronic 145989253 G T forward           DBSNP:rs6846476      
intronic 145991135 A G forward           DBSNP:rs11100863      
intronic 145994337 C T forward           DBSNP:rs6537310      
intronic 145994680 A T reverse           DBSNP:rs1907866      
intronic 145995783 C T forward           DBSNP:rs1389029      
intronic 145996493 G T forward           DBSNP:rs13102885      
intronic 145996638 G T forward           DBSNP:rs6815058      
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 145997759 C T forward           DBSNP:rs2276933      
intronic 145997950 C G forward           DBSNP:rs2276934      
intronic 145998590 A G forward           DBSNP:rs923783      
intronic 145998846 A T forward           DBSNP:rs6824479      
intronic 146000622 A T forward           DBSNP:rs6837694      
intronic 146000684 A G forward           DBSNP:rs6854783      
intronic 146000931 C G forward           DBSNP:rs6855202      
intronic 146001091 C T forward           DBSNP:rs6843518      
intronic 146002177 A C forward           DBSNP:rs12648712      
intronic 146002664 A C forward           DBSNP:rs17019665      
intronic 146003115 A G forward           DBSNP:rs6825470      
intronic 146003425 A G forward           DBSNP:rs6826051      
intronic 146003437 A T forward           DBSNP:rs6852812      
intronic 146003439 A T forward           DBSNP:rs6857915      
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 146003530 A C forward           DBSNP:rs17019668      
intronic 146003608 C T forward           DBSNP:rs17019673      
intronic 146004159 A G forward           DBSNP:rs1492818      
intronic 146004420 C T forward           DBSNP:rs1845122      
intronic 146005637 C T forward           DBSNP:rs923782      
intronic 146006388 C T forward           DBSNP:rs1552792      
intronic 146006847 C T forward           DBSNP:rs2353915      
intronic 146007626 C T reverse           DBSNP:rs1492820      
intronic 146008493 C T forward           DBSNP:rs2575575      
intronic 146008609 C T forward           DBSNP:rs11100864      
intronic 146008752 A G forward           DBSNP:rs11100865      
intronic 146008864 A T forward           DBSNP:rs17019695      
intronic 146009268 A G forward           DBSNP:rs6857302      
intronic 146010783 A G forward           DBSNP:rs4835184      
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 146012102 G T forward           DBSNP:rs7692915      
intronic 146012501 C T forward           DBSNP:rs11733546      
intronic 146012518 C T forward           DBSNP:rs11100866      
intronic 146013137 A C reverse           DBSNP:rs1472174      
intronic 146013659 C G reverse           DBSNP:rs1472173      
intronic 146013816 C T forward           DBSNP:rs11100867      
intronic 146014771 C T forward           DBSNP:rs11100868      
intronic 146014782 A G forward           DBSNP:rs11937370      
intronic 146015891 C T forward           DBSNP:rs6826012      
intronic 146016034 C T forward           DBSNP:rs2639576      
untranslated 145925076 A T forward           DBSNP:rs12507427    

Last updated 28-Aug-2006

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