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: rs587777586
rs587777586
1 1.000 3 12584653 missense variant A/G snv 0.800 1.000 1 2014 2014
dbSNP: rs587777587
rs587777587
2 1.000 3 12584539 missense variant G/A;C snv 1.2E-05; 4.0E-06 1.4E-05 0.800 1.000 1 2014 2014
dbSNP: rs587777588
rs587777588
1 1.000 3 12604261 missense variant C/T snv 1.6E-05 1.4E-05 0.800 1.000 1 2014 2014
dbSNP: rs1553609795
rs1553609795
1 1.000 3 12584584 missense variant T/C snv 0.700 1.000 1 2014 2014
dbSNP: rs778155315
rs778155315
1 1.000 3 12600214 missense variant T/C snv 8.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs1057403865
rs1057403865
1 1.000 3 12599805 missense variant G/C snv 7.0E-06 0.700 0
dbSNP: rs121434594
rs121434594
5 0.827 0.160 3 12604189 missense variant G/A;C;T snv 0.700 0
dbSNP: rs397516830
rs397516830
5 0.827 0.160 3 12604182 missense variant A/C;G;T snv 0.700 0
dbSNP: rs80338796
rs80338796
37 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.700 0