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: rs754279998
rs754279998
MKS1
10 0.776 0.360 17 58208153 inframe deletion GAG/- delins 2.0E-05 1.4E-05 0.700 0
dbSNP: rs758522600
rs758522600
BBS10
7 0.851 0.240 12 76347023 frameshift variant CTAA/- delins 4.0E-06 2.8E-05 0.700 0
dbSNP: rs769975073
rs769975073
DYNC2LI1
4 0.882 0.120 2 43794508 stop gained G/A snv 6.0E-05 7.0E-06 0.700 0
dbSNP: rs775081992
rs775081992
BBS9
5 0.851 0.240 7 33152811 stop gained C/T snv 2.0E-05 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: rs886039797
rs886039797
BBS2
7 0.807 0.280 16 56502807 missense variant A/C snv 4.0E-06 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: 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: rs886039811
rs886039811
B9D1
6 0.807 0.320 17 19357875 missense variant A/G snv 4.0E-06 0.700 0