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: rs797045046
rs797045046
GNAS
2 0.925 0.120 20 58891760 stop gained C/G;T snv 5.0E-06 0.700 1.000 4 2000 2016
dbSNP: rs137854535
rs137854535
GNAS
2 0.925 0.120 20 58909737 missense variant C/T snv 0.700 1.000 1 1998 1998
dbSNP: rs1555889131
rs1555889131
GNAS
1 1.000 0.120 20 58903792 splice donor variant G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs1057518907
rs1057518907
GNAS
16 0.732 0.320 20 58891811 stop gained C/G;T snv 0.700 0
dbSNP: rs1135401777
rs1135401777
GNAS
3 0.925 0.120 20 58853740 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs1272546759
rs1272546759
GNAS
4 0.925 0.120 20 58909718 missense variant C/G;T snv 7.0E-06 0.700 0
dbSNP: rs137854530
rs137854530
GNAS
8 0.776 0.240 20 58891727 start lost A/G;T snv 0.700 0
dbSNP: rs137854536
rs137854536
GNAS
1 1.000 0.120 20 58909737 missense variant CG/GC mnv 0.700 0
dbSNP: rs137854539
rs137854539
GNAS
28 0.716 0.520 20 58903703 missense variant C/T snv 0.700 0
dbSNP: rs1569015549
rs1569015549
GNAS
1 1.000 0.120 20 58903573 missense variant A/C snv 0.700 0
dbSNP: rs587776829
rs587776829
GNAS
3 0.882 0.200 20 58909194 frameshift variant GACT/- delins 0.700 0