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: rs1057519696
rs1057519696
ALK
5 1.000 0.040 2 29214054 missense variant C/T snv 0.700 1.000 1 2012 2012