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: rs111033571
rs111033571
2 0.925 0.120 9 116698130 missense variant C/T snv 8.0E-06 1.4E-05 0.800 1.000 1 2006 2006
dbSNP: rs3747835
rs3747835
1 1.000 0.120 9 116698964 missense variant C/T snv 1.5E-03 1.1E-03 0.700 0