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: rs587776829
rs587776829
GNAS
3 0.882 0.200 20 58909194 frameshift variant GACT/- delins 0.700 1.000 2 2013 2015
dbSNP: rs1057518907
rs1057518907
GNAS
16 0.732 0.320 20 58891811 stop gained C/G;T snv 0.700 0
dbSNP: rs137854530
rs137854530
GNAS
8 0.776 0.240 20 58891727 start lost A/G;T snv 0.700 0
dbSNP: rs1146031
rs1146031
ACVR1
2 0.925 0.200 2 157770468 synonymous variant C/T snv 0.97 0.92 0.010 1.000 1 2018 2018
dbSNP: rs893327176
rs893327176
GNAS
2 0.925 0.200 20 58910710 missense variant C/T snv 7.0E-06 0.010 1.000 1 2015 2015