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: rs397517132
rs397517132
48 0.623 0.280 7 55191846 missense variant A/T snv 0.020 1.000 2 2012 2014
dbSNP: rs1219568637
rs1219568637
2 7 55143404 missense variant G/A snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs140516819
rs140516819
4 7 55172999 missense variant A/C;G snv 4.0E-05 2.4E-04 0.010 1.000 1 2017 2017
dbSNP: rs35918369
rs35918369
4 7 55205613 missense variant C/T snv 3.1E-04 3.3E-04 0.010 1.000 1 2017 2017