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: rs370755364
rs370755364
PTCH1
1 1.000 0.120 9 95480451 missense variant G/A snv 9.9E-05 6.4E-05 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: rs970137214
rs970137214
TGIF1
1 1.000 0.120 18 3457798 missense variant C/T snv 8.0E-06 2.1E-05 0.010 1.000 1 2007 2007
dbSNP: rs139565972
rs139565972
FGF8 ; LOC105378457
1 1.000 0.120 10 101770595 missense variant C/A;T snv 6.0E-05 7.7E-05 0.700 0
dbSNP: rs146990376
rs146990376
SHH
1 1.000 0.120 7 155806384 stop gained G/A;C snv 1.2E-05 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: rs528376963
rs528376963
FGFR1
1 1.000 0.120 8 38424565 missense variant C/T snv 4.0E-06 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: rs61730334
rs61730334
FGF8 ; LOC105378457
1 1.000 0.120 10 101771509 missense variant G/A;C snv 8.0E-06 0.700 0
dbSNP: rs876661331
rs876661331
FGF8 ; LOC105378457
1 1.000 0.120 10 101770447 missense variant C/T snv 0.700 0
dbSNP: rs876661335
rs876661335
FGFR1
1 1.000 0.120 8 38414264 missense variant C/T snv 0.700 0
dbSNP: rs121909067
rs121909067
TGIF1
2 0.925 0.120 18 3456525 missense variant C/G snv 0.010 1.000 1 2007 2007
dbSNP: rs1315861554
rs1315861554
TGIF1
2 0.925 0.120 18 3457392 missense variant C/T snv 4.0E-06 0.010 1.000 1 2002 2002
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: rs104894042
rs104894042
SHH
2 0.925 0.120 7 155803618 missense variant A/T snv 0.700 0
dbSNP: rs104894043
rs104894043
SHH
2 0.925 0.120 7 155803613 missense variant C/T snv 4.4E-05 5.6E-05 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