Source: CURATED ×
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: rs17249754
rs17249754
ATP2B1
7 0.882 0.120 12 89666809 intron variant G/A snv 0.15 0.800 0.929 3 2010 2019
dbSNP: rs13333226
rs13333226
UMOD
7 0.827 0.200 16 20354332 intron variant A/G snv 0.23 0.810 1.000 2 2010 2016
dbSNP: rs167479
rs167479
RGL3
5 19 11416089 missense variant T/A;C;G snv 0.700 1.000 2 2016 2016
dbSNP: rs1902859
rs1902859 		4 4 80236549 regulatory region variant T/C snv 0.27 0.700 1.000 2 2015 2018
dbSNP: rs2681472
rs2681472
ATP2B1
9 0.882 0.080 12 89615182 intron variant A/G snv 0.14 0.860 1.000 2 2009 2019
dbSNP: rs28933386
rs28933386
PTPN11
14 0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 0.700 1.000 2 2001 2006
dbSNP: rs4409766
rs4409766
BORCS7 ; BORCS7-ASMT
6 1.000 0.040 10 102856906 intron variant T/C snv 0.14 0.700 1.000 2 2015 2018
dbSNP: rs633185
rs633185
ARHGAP42
10 0.925 0.080 11 100722807 intron variant G/A;C snv 0.800 1.000 2 2011 2018
dbSNP: rs6969780
rs6969780
HOXA3 ; HOXA-AS2
4 7 27119517 splice region variant G/A;C snv 0.700 1.000 2 2016 2017
dbSNP: rs7302981
rs7302981
CERS5
4 12 50144032 missense variant A/G;T snv 0.69 0.71 0.700 1.000 2 2016 2016
dbSNP: rs820430
rs820430 		3 3 27507409 regulatory region variant A/G snv 0.30 0.710 1.000 2 2015 2018
dbSNP: rs880315
rs880315
CASZ1
9 0.925 0.120 1 10736809 intron variant T/C snv 0.32 0.700 1.000 2 2015 2018
dbSNP: rs10033366
rs10033366
ENPEP
1 4 110409934 intron variant T/C snv 0.92 0.700 1.000 1 2018 2018
dbSNP: rs1004467
rs1004467
CYP17A1 ; CYP17A1-AS1
8 0.790 0.280 10 102834750 non coding transcript exon variant A/G snv 0.15 0.14 0.760 0.857 1 2011 2018
dbSNP: rs10069554
rs10069554 		1 5 33204354 intron variant T/C snv 0.45 0.700 1.000 1 2018 2018
dbSNP: rs10184428
rs10184428 		5 2 164155317 intron variant C/A;G snv 0.700 1.000 1 2018 2018
dbSNP: rs10188442
rs10188442
GPR39
1 2 132431666 intron variant C/T snv 0.22 0.700 1.000 1 2011 2011
dbSNP: rs1027989
rs1027989
LYN
3 8 55901862 intron variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs10279895
rs10279895 		1 7 27288591 intergenic variant A/G snv 2.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs10496288
rs10496288 		1 2 83065441 intergenic variant T/C snv 0.13 0.700 1.000 1 2011 2011
dbSNP: rs10496289
rs10496289 		1 2 83066256 intergenic variant C/T snv 0.13 0.700 1.000 1 2011 2011
dbSNP: rs10745332
rs10745332
CAPZA1
3 1 112646431 intron variant G/A snv 0.77 0.700 1.000 1 2015 2015
dbSNP: rs10776752
rs10776752
WNT2B
4 1 112501706 intron variant G/T snv 8.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs10785581
rs10785581
LOC105369743
1 12 45537190 intron variant C/A;G snv 0.700 1.000 1 2011 2011
dbSNP: rs10857147
rs10857147 		9 1.000 0.040 4 80259918 intergenic variant A/T snv 0.25 0.700 1.000 1 2018 2018