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: rs5443
rs5443
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.010 1.000 1 2019 2019
dbSNP: rs4647924
rs4647924
49 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 0.800 0.944 18 1997 2016
dbSNP: rs770374710
rs770374710
87 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs79184941
rs79184941
41 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.050 1.000 5 2004 2017
dbSNP: rs3804099
rs3804099
40 0.627 0.680 4 153703504 synonymous variant T/C snv 0.40 0.48 0.010 1.000 1 2011 2011
dbSNP: rs3804100
rs3804100
36 0.633 0.720 4 153704257 synonymous variant T/C snv 9.0E-02 6.7E-02 0.010 1.000 1 2011 2011
dbSNP: rs28933068
rs28933068
30 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.700 1.000 9 1995 2014
dbSNP: rs1276519904
rs1276519904
63 0.645 0.520 1 226071445 missense variant A/G snv 0.700 0
dbSNP: rs121913483
rs121913483
31 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.700 1.000 6 1995 2015
dbSNP: rs121913105
rs121913105
30 0.653 0.600 4 1806163 missense variant A/C;T snv 0.710 0.833 6 1999 2016
dbSNP: rs1554700718
rs1554700718
59 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
dbSNP: rs77543610
rs77543610
28 0.667 0.560 10 121520160 missense variant G/C snv 0.040 1.000 4 1999 2014
dbSNP: rs28931614
rs28931614
21 0.672 0.520 4 1804392 missense variant G/A;C snv 0.700 1.000 5 1996 2015
dbSNP: rs78311289
rs78311289
25 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.720 0.833 6 1998 2011
dbSNP: rs1557036768
rs1557036768
44 0.708 0.320 X 53647390 missense variant C/T snv 0.700 0
dbSNP: rs121913485
rs121913485
18 0.716 0.400 4 1804372 missense variant A/G snv 0.700 1.000 4 1996 2017
dbSNP: rs121918487
rs121918487
25 0.716 0.440 10 121517378 missense variant C/A;G;T snv 0.710 1.000 1 2017 2017
dbSNP: rs213950
rs213950
16 0.716 0.320 7 117559479 missense variant G/A snv 0.47 0.57 0.010 1.000 1 2000 2000
dbSNP: rs121918491
rs121918491
15 0.716 0.440 10 121517371 synonymous variant C/T snv 4.0E-06 0.700 0
dbSNP: rs1318358361
rs1318358361
13 0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05 0.010 1.000 1 1997 1997
dbSNP: rs28931615
rs28931615
13 0.732 0.240 4 1804426 missense variant C/A;T snv 0.700 1.000 7 1995 2013
dbSNP: rs75527207
rs75527207
15 0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04 0.010 1.000 1 2019 2019
dbSNP: rs1564919048
rs1564919048
23 0.732 0.280 10 121520106 missense variant C/A snv 0.700 0
dbSNP: rs200215055
rs200215055
11 0.742 0.400 1 161626196 missense variant C/A;G;T snv 1.5E-03; 1.2E-05; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs374608214
rs374608214
13 0.742 0.160 10 121520010 missense variant G/C snv 4.0E-06 7.0E-06 0.010 1.000 1 1997 1997