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: rs374270497
rs374270497
2 0.925 0.040 6 131860504 missense variant C/A;T snv 2.0E-05 0.700 1.000 1 2008 2008
dbSNP: rs1243920034
rs1243920034
2 0.925 0.040 6 131873023 missense variant A/G snv 0.010 1.000 1 2012 2012