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: rs1250875000
rs1250875000
2 0.925 0.040 21 6560927 missense variant C/A;T snv 0.010 1.000 1 2008 2008