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: rs28933372
rs28933372
GLI3
5 0.827 0.120 7 41966273 missense variant C/G snv 0.010 1.000 1 2013 2013
dbSNP: rs200750564
rs200750564
HOXD13
6 0.827 0.160 2 176094518 stop gained C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs912923677
rs912923677
MKKS
4 0.851 0.240 20 10407704 missense variant T/C snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs137853105
rs137853105
MKS1
4 0.882 0.160 17 58206479 missense variant A/C snv 5.6E-05 2.8E-05 0.700 0
dbSNP: rs1488635637
rs1488635637
MKS1
6 0.827 0.360 17 58208003 splice acceptor variant T/C;G snv 7.0E-06 0.700 0
dbSNP: rs754279998
rs754279998
MKS1
10 0.776 0.360 17 58208153 inframe deletion GAG/- delins 2.0E-05 1.4E-05 0.700 0
dbSNP: rs786205508
rs786205508
MKS1
5 0.851 0.200 17 58208542 stop gained G/A snv 0.700 0
dbSNP: rs886039803
rs886039803
MKS1
3 0.925 0.120 17 58216664 splice donor variant A/T snv 0.700 0
dbSNP: rs1553794304
rs1553794304
PIGX ; CEP19
6 0.851 0.160 3 196707860 stop gained -/T delins 0.700 1.000 1 2018 2018
dbSNP: rs9651492
rs9651492
PTEN
3 0.882 0.160 10 87933216 missense variant G/A;C snv 0.010 1.000 1 2007 2007
dbSNP: rs1085307138
rs1085307138
PUF60 ; SCRIB
9 0.807 0.160 8 143817591 splice donor variant C/T snv 0.700 0
dbSNP: rs281875322
rs281875322
SMAD4
6 0.807 0.480 18 51078306 missense variant A/G snv 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs879255280
rs879255280
SMO
22 0.701 0.200 7 129206557 missense variant C/T snv 0.700 0
dbSNP: rs886039807
rs886039807
TMEM231
11 0.776 0.480 16 75541466 non coding transcript exon variant A/G snv 4.2E-06 0.700 0
dbSNP: rs751375244
rs751375244
TRAPPC3
6 0.827 0.280 1 36139776 missense variant G/A snv 1.2E-05 3.5E-05 0.700 0
dbSNP: rs886039791
rs886039791
TXNDC15
5 0.882 0.160 5 134893572 inframe deletion AGTTTGGCCCCTCAC/- delins 0.700 0
dbSNP: rs886039792
rs886039792
TXNDC15
9 0.807 0.280 5 134874531 splice donor variant G/A snv 0.700 0
dbSNP: rs1163162816
rs1163162816
WNT10B
2 0.925 0.080 12 48968320 splice acceptor variant C/G;T snv 7.0E-06 0.700 0