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: rs1057519875
rs1057519875
ACVR1
2 0.925 0.120 2 157770385 missense variant C/A snv 0.700 1.000 1 2016 2016