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: rs56285021
rs56285021
2 0.925 0.040 5 122422868 missense variant T/C snv 4.0E-06 0.010 1.000 1 2002 2002