Source: ALL
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: rs137852777
rs137852777
EFHC1
1 1.000 0.040 6 52452742 missense variant G/A snv 4.8E-05 0.800 1.000 6 2004 2017
dbSNP: rs137852776
rs137852776
EFHC1
5 0.827 0.080 6 52452799 missense variant T/C snv 3.5E-03 2.4E-03 0.730 1.000 8 2004 2017
dbSNP: rs149055334
rs149055334
EFHC1
2 0.925 0.040 6 52424111 missense variant C/A snv 1.9E-03 7.7E-03 0.710 1.000 7 2004 2017
dbSNP: rs79761183
rs79761183
EFHC1
2 0.925 0.040 6 52452776 missense variant G/A;C snv 2.0E-03; 8.0E-06; 1.2E-05 7.6E-03 0.710 1.000 7 2004 2017
dbSNP: rs371151471
rs371151471
EFHC1
1 1.000 0.040 6 52465092 missense variant C/T snv 1.2E-03 2.0E-04 0.700 1.000 7 2004 2017
dbSNP: rs527295360
rs527295360
EFHC1
1 1.000 0.040 6 52465035 missense variant C/T snv 2.1E-04 1.5E-04 0.700 1.000 7 2004 2017
dbSNP: rs543160745
rs543160745
EFHC1
1 1.000 0.040 6 52424148 missense variant A/G snv 4.0E-06; 7.6E-05 0.700 1.000 7 2004 2017
dbSNP: rs574948354
rs574948354
EFHC1
1 1.000 0.040 6 52492310 missense variant A/G snv 8.0E-05 0.700 1.000 7 2004 2017
dbSNP: rs137852778
rs137852778
EFHC1
1 1.000 0.040 6 52454128 missense variant G/A;T snv 2.0E-05 0.700 1.000 6 2004 2017
dbSNP: rs142458862
rs142458862
EFHC1
1 1.000 0.040 6 52492274 missense variant T/G snv 1.8E-04 1.2E-04 0.700 1.000 6 2004 2017
dbSNP: rs527539103
rs527539103
EFHC1
1 1.000 0.040 6 52479703 missense variant A/G snv 0.700 1.000 6 2004 2017
dbSNP: rs745600475
rs745600475
EFHC1
1 1.000 0.040 6 52438476 missense variant G/A;T snv 1.2E-05; 4.0E-06 0.700 1.000 6 2004 2017
dbSNP: rs764096785
rs764096785
EFHC1
1 1.000 0.040 6 52438370 missense variant C/T snv 1.2E-05 3.5E-05 0.700 1.000 6 2004 2017
dbSNP: rs772265107
rs772265107
EFHC1
1 1.000 0.040 6 52490165 missense variant G/A;T snv 4.8E-05; 4.0E-06 0.700 1.000 6 2004 2017
dbSNP: rs1046276
rs1046276
CTF1
3 1.000 0.040 16 30903305 3 prime UTR variant T/C snv 0.62 0.700 1.000 1 2018 2018
dbSNP: rs200191497
rs200191497
EFHC1
1 1.000 0.040 6 52438562 missense variant C/T snv 7.2E-05 1.4E-05 0.700 1.000 1 2010 2010
dbSNP: rs377286138
rs377286138
EFHC1
1 1.000 0.040 6 52479064 missense variant C/T snv 1.1E-04 7.0E-05 0.700 1.000 1 2010 2010
dbSNP: rs149998588
rs149998588
EFHC1
1 1.000 0.040 6 52479759 stop gained C/T snv 3.2E-05 1.4E-05 0.700 0
dbSNP: rs767833659
rs767833659
EFHC1
1 1.000 0.040 6 52465042 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs779322943
rs779322943
EFHC1
1 1.000 0.040 6 52479211 missense variant T/C snv 4.0E-06 0.700 0
dbSNP: rs3918149
rs3918149
HLA-DMA ; BRD2
1 1.000 0.040 6 32968596 5 prime UTR variant G/A snv 0.11 0.040 0.750 4 2007 2019
dbSNP: rs211037
rs211037
GABRG2
14 0.742 0.240 5 162101274 synonymous variant C/T snv 0.28 0.31 0.030 0.667 3 2013 2018
dbSNP: rs121434579
rs121434579
GABRA1
2 0.925 0.040 5 161895774 missense variant C/A snv 0.020 1.000 2 2002 2005
dbSNP: rs1805032
rs1805032
CACNB4
3 1.000 0.040 2 151839238 stop gained G/A snv 4.0E-06 7.0E-06 0.020 1.000 2 2000 2012
dbSNP: rs3743123
rs3743123
GJD2
1 1.000 0.040 15 34752856 synonymous variant G/A snv 0.32 0.31 0.020 1.000 2 2006 2017