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: rs121913495
rs121913495
GNAS
28 0.672 0.400 20 58909366 missense variant G/A;T snv 0.850 1.000 11 1991 2018
dbSNP: rs11554273
rs11554273
GNAS
22 0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 2 2004 2013
dbSNP: rs1569032751
rs1569032751
GNAS
1 1.000 0.040 20 58910787 inframe deletion CAT/- delins 0.700 1.000 2 1996 2001
dbSNP: rs121913494
rs121913494
GNAS
7 0.827 0.240 20 58909541 missense variant A/G;T snv 0.700 1.000 1 2007 2007
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: rs137854533
rs137854533
GNAS
2 0.925 0.040 20 58909542 missense variant G/C;T snv 0.700 0
dbSNP: rs797045203
rs797045203
GNAS
1 1.000 0.040 20 58909540 missense variant C/A snv 0.700 0
dbSNP: rs768713502
rs768713502
AMH ; MIR4321
5 0.882 0.120 19 2250752 missense variant G/A;T snv 7.6E-06; 1.5E-05 0.030 1.000 3 2001 2008
dbSNP: rs1440530084
rs1440530084
COASY
3 0.882 0.040 17 42563227 missense variant G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2017 2017