Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs28933372
GLI3
0.827 0.120 7 41966273 missense variant C/G snv 1
rs886039807
TMEM231
0.776 0.480 16 75541466 non coding transcript exon variant A/G snv 4.2E-06 11
rs1085307138
PUF60 ; SCRIB
0.807 0.160 8 143817591 splice donor variant C/T snv 9
rs1565329461
DYNC2H1
0.851 0.200 11 103135949 splice donor variant G/A snv 9
rs886039792
TXNDC15
0.807 0.280 5 134874531 splice donor variant G/A snv 9
rs886039801
BBS9
0.851 0.240 7 33388145 splice donor variant G/A snv 6
rs374356079
DYNC2LI1
0.882 0.120 2 43805247 splice donor variant G/A snv 2.0E-05 7.0E-06 4
rs886039803
MKS1
0.925 0.120 17 58216664 splice donor variant A/T snv 3
rs886039799
BBS9
0.763 0.320 7 33273896 frameshift variant C/- del 17
rs758522600
BBS10
0.851 0.240 12 76347023 frameshift variant CTAA/- delins 4.0E-06 2.8E-05 7
rs886039800
BBS4
0.851 0.240 15 72735944 frameshift variant G/- del 6
rs1488635637
MKS1
0.827 0.360 17 58208003 splice acceptor variant T/C;G snv 7.0E-06 6
rs1163162816
WNT10B
0.925 0.080 12 48968320 splice acceptor variant C/G;T snv 7.0E-06 2
rs879255656
DYNC2LI1
0.882 0.120 2 43805249 splice region variant A/G snv 4
rs754279998
MKS1
0.776 0.360 17 58208153 inframe deletion GAG/- delins 2.0E-05 1.4E-05 10
rs886039791
TXNDC15
0.882 0.160 5 134893572 inframe deletion AGTTTGGCCCCTCAC/- delins 5