Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs137854539
GNAS
0.716 0.520 20 58903703 missense variant C/T snv 27
rs11554273
GNAS
0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06 17
rs1057518907
GNAS
0.732 0.320 20 58891811 stop gained C/G;T snv 16
rs121913495
GNAS
0.672 0.400 20 58909366 missense variant G/A;T snv 15
rs137854530
GNAS
0.776 0.240 20 58891727 start lost A/G;T snv 8
rs1272546759
GNAS
0.925 0.120 20 58909718 missense variant C/G;T snv 7.0E-06 4
rs1555891562
GNAS
1.000 20 58909707 missense variant G/A snv 3
rs121913494
GNAS
0.827 0.240 20 58909541 missense variant A/G;T snv 3
rs1135401777
GNAS
0.925 0.120 20 58853740 missense variant G/A snv 7.0E-06 3
rs587776829
GNAS
0.882 0.200 20 58909194 frameshift variant GACT/- delins 3
rs797045046
GNAS
0.925 0.120 20 58891760 stop gained C/G;T snv 5.0E-06 2
rs137854533
GNAS
0.925 0.040 20 58909542 missense variant G/C;T snv 2
rs863224876
GNAS
0.925 0.120 20 58909991 stop gained C/T snv 2
rs1555889131
GNAS
1.000 0.120 20 58903792 splice donor variant G/A snv 1
rs137854536
GNAS
1.000 0.120 20 58909737 missense variant CG/GC mnv 1
rs137854535
GNAS
0.925 0.120 20 58909737 missense variant C/T snv 1
rs1569015549
GNAS
1.000 0.120 20 58903573 missense variant A/C snv 1
rs1569032751
GNAS
1.000 0.040 20 58910787 inframe deletion CAT/- delins 1
rs797045203
GNAS
1.000 0.040 20 58909540 missense variant C/A snv 1
rs397514456
GNAS
1.000 0.120 20 58910818 stop gained G/A;T snv 1
rs397514457
GNAS
1.000 0.120 20 58910807 missense variant T/G snv 1
rs137854532
GNAS
0.882 0.160 20 58905443 missense variant C/T snv 1
rs137854538
GNAS
1.000 0.120 20 58909553 missense variant G/A snv 1
rs137854534
GNAS
1.000 0.120 20 58909715 missense variant C/G snv 1
rs137854531
GNAS
1.000 0.120 20 58903569 missense variant T/C snv 1