Gene: ACTN2 ×
Source: CLINVAR ×
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: rs727502886
rs727502886
ACTN2
3 0.925 0.040 1 236719007 missense variant G/A snv 0.700 1.000 1 2010 2010