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: rs139495292
rs139495292
1 1.000 0.240 2 121530919 non coding transcript exon variant C/G;T snv 7.7E-06; 4.6E-05 0.700 0
dbSNP: rs180755563
rs180755563
1 1.000 0.240 2 121530932 non coding transcript exon variant C/A;G;T snv 6.9E-05; 1.6E-04 0.700 0
dbSNP: rs181195449
rs181195449
1 1.000 0.240 2 121530929 non coding transcript exon variant G/A;C snv 1.2E-04; 1.5E-05 0.700 0
dbSNP: rs188343279
rs188343279
2 0.925 0.360 2 121530930 non coding transcript exon variant G/A snv 4.3E-04 4.5E-04 0.700 0
dbSNP: rs374299350
rs374299350
1 1.000 0.240 2 121530909 non coding transcript exon variant G/A;C;T snv 6.1E-05; 1.5E-05 0.700 0
dbSNP: rs377619732
rs377619732
1 1.000 0.240 2 121530945 non coding transcript exon variant G/A;C snv 2.8E-04; 7.7E-06 0.700 0
dbSNP: rs544312701
rs544312701
1 1.000 0.240 2 121531003 non coding transcript exon variant G/A;T snv 0.700 0
dbSNP: rs575472572
rs575472572
1 1.000 0.240 2 121530934 non coding transcript exon variant G/A;C snv 6.9E-05; 7.7E-06 0.700 0
dbSNP: rs763500364
rs763500364
1 1.000 0.240 2 121530990 non coding transcript exon variant G/A;T snv 3.8E-05; 7.7E-06 0.700 0
dbSNP: rs767903929
rs767903929
1 1.000 0.240 6 31806095 synonymous variant C/T snv 0.010 1.000 1 2014 2014