Source: CLINVAR ×
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: rs1259852690
rs1259852690
1 16 30669598 missense variant C/G snv 4.2E-06 2.8E-05 0.700 0
dbSNP: rs1567547614
rs1567547614
1 16 30668622 missense variant G/A snv 0.700 0