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: rs121913499
rs121913499
IDH1
51 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913500
rs121913500
IDH1
96 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1250801605
rs1250801605
CASP10
1 1.000 0.160 2 201185809 missense variant G/A snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs12621278
rs12621278
ITGA6
7 0.790 0.280 2 172446825 intron variant A/G snv 4.9E-02 0.010 1.000 1 2011 2011
dbSNP: rs12711846
rs12711846
ACOXL ; ACOXL-AS1 ; MIR4435-2HG
4 0.851 0.160 2 111098716 non coding transcript exon variant A/G snv 0.26 0.700 1.000 1 2017 2017
dbSNP: rs13387987
rs13387987
DTNB
1 1.000 0.160 2 25459547 intron variant G/A snv 0.29 0.700 1.000 1 2011 2011
dbSNP: rs13390436
rs13390436
DTNB
1 1.000 0.160 2 25447908 intron variant C/T snv 0.28 0.700 1.000 1 2011 2011
dbSNP: rs13397493
rs13397493
DTNB
1 1.000 0.160 2 25449823 intron variant C/T snv 0.24 0.700 1.000 1 2011 2011
dbSNP: rs149207840
rs149207840
SP140
4 0.851 0.160 2 230279864 intron variant CTGCCTC/-;CTGCCTCCTGCCTC delins 0.15 0.700 1.000 1 2017 2017
dbSNP: rs201478192
rs201478192
KIDINS220
12 0.790 0.200 2 8731667 missense variant C/A snv 2.4E-04 2.6E-04 0.010 1.000 1 2007 2007
dbSNP: rs2036653
rs2036653
DTNB
1 1.000 0.160 2 25444100 intron variant A/T snv 0.28 0.700 1.000 1 2011 2011
dbSNP: rs2227982
rs2227982
PDCD1 ; LOC105373977
24 0.677 0.480 2 241851281 missense variant G/A snv 9.2E-02 4.3E-02 0.010 1.000 1 2020 2020
dbSNP: rs2384232
rs2384232
DTNB
1 1.000 0.160 2 25400880 intron variant G/A snv 0.38 0.700 1.000 1 2013 2013
dbSNP: rs28801070
rs28801070 		1 1.000 0.160 2 185380090 intergenic variant G/A snv 0.700 1.000 1 2011 2011
dbSNP: rs3087243
rs3087243
CTLA4
44 0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 0.010 1.000 1 2020 2020
dbSNP: rs4325816
rs4325816
SP3
1 1.000 0.160 2 173944171 intron variant T/C snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs55924491
rs55924491
DTNB
1 1.000 0.160 2 25382154 intron variant C/G snv 0.13 0.700 1.000 1 2011 2011
dbSNP: rs559979934
rs559979934
CASP10
1 1.000 0.160 2 201185838 missense variant C/G;T snv 4.8E-05 2.1E-05 0.010 1.000 1 2009 2009
dbSNP: rs61070260
rs61070260
LRP1B
1 1.000 0.160 2 140846426 intron variant G/A snv 5.7E-02 0.010 1.000 1 2019 2019
dbSNP: rs6546149
rs6546149
DTNB
4 0.851 0.160 2 25406569 intron variant C/G snv 0.38 0.700 1.000 1 2017 2017
dbSNP: rs6546184
rs6546184
DTNB
1 1.000 0.160 2 25449600 intron variant C/T snv 0.26 0.700 1.000 1 2011 2011
dbSNP: rs6761076
rs6761076
DTNB
1 1.000 0.160 2 25384889 intron variant T/C snv 0.25 0.700 1.000 1 2011 2011
dbSNP: rs733618
rs733618
CTLA4
12 0.763 0.440 2 203866221 upstream gene variant T/C snv 0.10 0.010 1.000 1 2018 2018
dbSNP: rs75002266
rs75002266
ORC4
6 0.827 0.160 2 147939241 missense variant G/A snv 3.2E-03 3.0E-03 0.010 1.000 1 2009 2009
dbSNP: rs7558082
rs7558082
DTNB
1 1.000 0.160 2 25389945 intron variant C/T snv 0.22 0.700 1.000 1 2011 2011