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: rs191456345
rs191456345
3 0.925 0.160 7 117536576 missense variant A/G snv 1.8E-04 1.1E-04 0.700 1.000 17 1995 2017
dbSNP: rs397508462
rs397508462
2 1.000 0.120 7 117606701 missense variant A/C;G;T snv 3.6E-05; 4.0E-06 0.700 1.000 14 1997 2014
dbSNP: rs193922511
rs193922511
2 1.000 0.040 7 117603687 missense variant T/G snv 1.6E-05 2.8E-05 0.700 1.000 10 1997 2017
dbSNP: rs113857788
rs113857788
5 0.882 0.160 7 117664780 missense variant G/C;T snv 1.0E-03; 6.0E-05 0.700 0