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: rs878853243
rs878853243
TSPAN12
4 0.851 0.160 7 120806619 missense variant C/A snv 0.700 0
dbSNP: rs989864153
rs989864153
LRP5
1 1.000 0.080 11 68406592 missense variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs373273223
rs373273223
ZNF408
3 0.882 0.080 11 46705063 missense variant C/T snv 1.2E-05 2.8E-05 0.010 1.000 1 2018 2018