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: rs60376624
rs60376624
1 1.000 0.160 5 132392565 missense variant C/G snv 1.7E-04 8.4E-05 0.810 1.000 7 1999 2012
dbSNP: rs151231558
rs151231558
1 1.000 0.160 5 132378408 missense variant G/A;T snv 1.2E-05; 5.6E-05 0.800 1.000 25 1990 2019
dbSNP: rs202088921
rs202088921
1 1.000 0.160 5 132370108 missense variant C/G;T snv 4.5E-04 0.800 1.000 24 1999 2017
dbSNP: rs72552725
rs72552725
1 0.882 0.280 5 132370067 missense variant A/G snv 2.4E-05 2.1E-05 0.800 1.000 24 1999 2017
dbSNP: rs72552726
rs72552726
1 1.000 0.160 5 132370220 missense variant G/T snv 2.7E-04 3.5E-05 0.800 1.000 23 1999 2017
dbSNP: rs121908890
rs121908890
1 1.000 0.160 5 132384154 missense variant C/T snv 4.0E-06 0.800 1.000 22 1999 2017
dbSNP: rs72552732
rs72552732
1 1.000 0.160 5 132392484 missense variant C/T snv 1.2E-05 4.2E-05 0.800 1.000 22 1999 2017
dbSNP: rs749282641
rs749282641
1 1.000 0.160 5 132392576 missense variant C/A;T snv 8.0E-06 0.800 1.000 22 1999 2017
dbSNP: rs121908889
rs121908889
1 1.000 0.160 5 132384155 missense variant G/A snv 4.4E-05 2.8E-05 0.800 1.000 21 1999 2017
dbSNP: rs267607054
rs267607054
1 1.000 0.160 5 132390832 missense variant C/T snv 1.2E-04 2.1E-05 0.800 1.000 21 1999 2017
dbSNP: rs386134218
rs386134218
1 1.000 0.160 5 132392505 missense variant A/G snv 7.0E-06 0.800 1.000 21 1999 2017
dbSNP: rs386134221
rs386134221
1 1.000 0.160 5 132392568 missense variant C/A;G snv 4.0E-06; 8.0E-06 0.800 1.000 20 1999 2017
dbSNP: rs144547521
rs144547521
1 1.000 0.160 5 132390830 missense variant C/T snv 8.0E-05 6.3E-05 0.800 1.000 19 1999 2017
dbSNP: rs185551386
rs185551386
1 1.000 0.160 5 132385355 missense variant G/A snv 6.0E-05 3.5E-05 0.800 1.000 19 1999 2017
dbSNP: rs201082652
rs201082652
1 1.000 0.160 5 132370336 missense variant G/A;T snv 3.8E-04 0.800 1.000 19 1999 2017
dbSNP: rs386134210
rs386134210
1 1.000 0.160 5 132387045 missense variant G/A;C snv 4.0E-06 0.800 1.000 19 1999 2017
dbSNP: rs72552734
rs72552734
1 1.000 0.160 5 132392519 missense variant G/A snv 2.8E-05 1.4E-05 0.800 1.000 19 1999 2017
dbSNP: rs121908888
rs121908888
1 1.000 0.160 5 132384281 missense variant A/G snv 8.0E-06 7.0E-06 0.800 1.000 18 1999 2017
dbSNP: rs121908891
rs121908891
1 1.000 0.160 5 132390833 missense variant G/A snv 1.6E-05 2.1E-05 0.800 1.000 18 1999 2017
dbSNP: rs267607052
rs267607052
1 1.000 0.160 5 132370015 missense variant G/T snv 9.6E-05 0.800 1.000 18 1999 2017
dbSNP: rs267607053
rs267607053
1 1.000 0.160 5 132392489 missense variant GC/AT mnv 0.800 1.000 18 1999 2017
dbSNP: rs68018207
rs68018207
1 1.000 0.160 5 132389020 stop lost T/C snv 0.800 1.000 18 1999 2017
dbSNP: rs72552735
rs72552735
1 1.000 0.160 5 132392598 missense variant C/T snv 0.800 1.000 18 1999 2017
dbSNP: rs11568520
rs11568520
1 1.000 0.160 5 132370023 missense variant C/G snv 1.2E-04 4.9E-05 0.800 1.000 5 2006 2014
dbSNP: rs28383481
rs28383481
1 1.000 0.160 5 132393688 missense variant G/A snv 3.2E-03 3.4E-03 0.800 0