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: rs11559300
rs11559300
1 1.000 0.040 1 84506076 missense variant T/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs13093
rs13093
1 1.000 0.040 1 84506286 5 prime UTR variant G/A;C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs199705300
rs199705300
1 1.000 0.040 1 84501910 missense variant G/T snv 6.8E-05 0.010 1.000 1 2015 2015
dbSNP: rs41284589
rs41284589
2 1.000 0.040 1 84506243 5 prime UTR variant G/A snv 5.4E-02 0.010 1.000 1 2015 2015
dbSNP: rs61754630
rs61754630
1 1.000 0.040 1 84501885 missense variant G/A snv 4.0E-06 0.010 1.000 1 2015 2015