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: rs201030241
rs201030241
1 1.000 0.080 11 68446497 missense variant A/G snv 3.7E-04 5.6E-05 0.700 1.000 1 2016 2016
dbSNP: rs1320065036
rs1320065036
2 0.925 0.160 11 68386342 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1332274863
rs1332274863
1 1.000 0.080 11 68386441 missense variant G/A snv 4.0E-06 0.700 0
dbSNP: rs989864153
rs989864153
1 1.000 0.080 11 68406592 missense variant C/A;T snv 4.0E-06 0.700 0