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: rs1407369744
rs1407369744
ACTN2
2 1.000 0.080 1 236739384 missense variant T/G snv 8.0E-06 7.0E-06 0.010 1.000 1 2019 2019