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: rs1553794304
rs1553794304
PIGX ; CEP19
6 0.851 0.160 3 196707860 stop gained -/T delins 0.700 1.000 1 2018 2018
dbSNP: rs28933372
rs28933372
GLI3
5 0.827 0.120 7 41966273 missense variant C/G snv 0.010 1.000 1 2013 2013
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: rs1163162816
rs1163162816
WNT10B
2 0.925 0.080 12 48968320 splice acceptor variant C/G;T snv 7.0E-06 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: rs1565329461
rs1565329461
DYNC2H1
9 0.851 0.200 11 103135949 splice donor variant G/A snv 0.700 0
dbSNP: rs786205508
rs786205508
MKS1
5 0.851 0.200 17 58208542 stop gained G/A snv 0.700 0
dbSNP: rs879255280
rs879255280
SMO
22 0.701 0.200 7 129206557 missense variant C/T snv 0.700 0
dbSNP: rs879255655
rs879255655
DYNC2LI1 ; ABCG5
4 0.882 0.120 2 43809711 stop gained G/T snv 0.700 0
dbSNP: rs879255656
rs879255656
DYNC2LI1
4 0.882 0.120 2 43805249 splice region variant A/G snv 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: rs886039799
rs886039799
BBS9
17 0.763 0.320 7 33273896 frameshift variant C/- del 0.700 0
dbSNP: rs886039800
rs886039800
BBS4
6 0.851 0.240 15 72735944 frameshift variant G/- del 0.700 0
dbSNP: rs886039801
rs886039801
BBS9
6 0.851 0.240 7 33388145 splice donor variant G/A snv 0.700 0
dbSNP: rs886039802
rs886039802
BBS4
6 0.851 0.200 15 72712259 stop gained C/T 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: rs147030232
rs147030232
BBS2
8 0.827 0.160 16 56501014 stop gained G/A;C snv 2.0E-05; 4.0E-06 0.700 0
dbSNP: rs886039811
rs886039811
B9D1
6 0.807 0.320 17 19357875 missense variant A/G snv 4.0E-06 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: rs753317536
rs753317536
EVC
12 0.790 0.160 4 5719239 intron variant G/A;C snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs118203918
rs118203918
CILK1
6 0.882 0.160 6 53016099 missense variant C/T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs749974697
rs749974697
BBS9
5 0.851 0.240 7 33152851 stop gained C/A;T snv 4.0E-06; 1.6E-05 0.700 0
dbSNP: rs886039797
rs886039797
BBS2
7 0.807 0.280 16 56502807 missense variant A/C snv 4.0E-06 0.700 0