Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121909067
rs121909067
TGIF1
2 0.925 0.120 18 3456525 missense variant C/G snv 0.010 1.000 1 2007 2007
dbSNP: rs377240055
rs377240055
FGF8 ; LOC105378457
1 1.000 0.120 10 101770498 missense variant C/T snv 0.010 1.000 1 2011 2011
dbSNP: rs587778792
rs587778792
SHH
2 0.925 0.120 7 155811823 missense variant C/G snv 0.710 1.000 1 2005 2005
dbSNP: rs587778799
rs587778799
SHH
2 0.925 0.120 7 155806296 missense variant C/G snv 0.710 1.000 1 2005 2005
dbSNP: rs104894040
rs104894040
SHH
4 0.882 0.160 7 155806509 missense variant A/C;G snv 0.700 0
dbSNP: rs104894042
rs104894042
SHH
2 0.925 0.120 7 155803618 missense variant A/T snv 0.700 0
dbSNP: rs104894044
rs104894044
SHH
2 0.925 0.120 7 155811825 stop gained G/A snv 0.700 0
dbSNP: rs104894045
rs104894045
SHH
2 0.925 0.120 7 155806545 stop gained T/A snv 0.700 0
dbSNP: rs104894050
rs104894050
SHH
2 0.925 0.120 7 155811860 missense variant T/A snv 0.700 0
dbSNP: rs1490604080
rs1490604080
FGF8 ; LOC105378457
1 1.000 0.120 10 101771462 splice donor variant C/T snv 0.700 0
dbSNP: rs1554834321
rs1554834321
FGF8 ; LOC105378457
1 1.000 0.120 10 101770491 inframe deletion GCCGGCCCTTGCGGG/- delins 0.700 0
dbSNP: rs1554834889
rs1554834889
FGF8
1 1.000 0.120 10 101774912 missense variant C/G snv 0.700 0
dbSNP: rs1554834892
rs1554834892
FGF8
1 1.000 0.120 10 101774913 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1557612048
rs1557612048
ARID1A
11 0.807 0.200 1 26767868 missense variant T/C snv 0.700 0
dbSNP: rs28936675
rs28936675
SHH
2 0.925 0.120 7 155812032 missense variant C/T snv 0.700 0
dbSNP: rs397515364
rs397515364
ZIC2
2 0.925 0.120 13 99985400 frameshift variant -/C delins 0.700 0
dbSNP: rs397515365
rs397515365
ZIC2
2 0.925 0.120 13 99983104 frameshift variant GAGAACC/- delins 0.700 0
dbSNP: rs397515375
rs397515375
SHH
2 0.925 0.120 7 155803481 inframe deletion GCGGCGGTGAGCAGCAGGCGC/- delins 0.700 0
dbSNP: rs397515376
rs397515376
SHH
2 0.925 0.120 7 155803149 inframe deletion GCGCGAAGG/- delins 0.700 0
dbSNP: rs587778786
rs587778786
SHH
1 1.000 0.120 7 155803063 inframe deletion CCCGCGGTCCCCGCC/- delins 0.700 0
dbSNP: rs587778788
rs587778788
SHH
1 1.000 0.120 7 155812113 frameshift variant -/CAGC delins 0.700 0
dbSNP: rs587778789
rs587778789
SHH
1 1.000 0.120 7 155812078 frameshift variant GACGAGGA/- delins 0.700 0
dbSNP: rs587778803
rs587778803
SHH
1 1.000 0.120 7 155803664 stop gained G/A;C snv 0.700 0
dbSNP: rs587778805
rs587778805
SHH
2 0.925 0.120 7 155803625 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs587778806
rs587778806
SHH
2 0.925 0.120 7 155803581 missense variant G/T snv 0.700 0