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: rs121434438
rs121434438
ACVR2B
1 1.000 3 38483273 missense variant G/A snv 1.6E-05 7.0E-06 0.800 1.000 1 1999 1999
dbSNP: rs121434437
rs121434437
ACVR2B
1 1.000 3 38477353 missense variant G/A snv 1.1E-03 3.9E-03 0.700 1.000 1 1999 1999