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: 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: 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: 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: 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: 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: rs10948071
rs10948071
ZNF318
4 6 43312975 intron variant C/T snv 0.46 0.700 1.000 1 2018 2018
dbSNP: rs11014166
rs11014166
CACNB2
8 0.882 0.040 10 18419869 intron variant A/T snv 0.27 0.800 1.000 1 2009 2009
dbSNP: rs11066280
rs11066280
HECTD4
18 0.742 0.280 12 112379979 intron variant T/A snv 7.0E-03 0.710 1.000 1 2014 2015
dbSNP: rs11067763
rs11067763
LOC105370003
3 12 115760536 intron variant A/G snv 0.16 0.700 1.000 1 2015 2015
dbSNP: rs11105364
rs11105364
ATP2B1
4 12 89675499 intron variant T/G snv 0.15 0.700 1.000 1 2018 2018
dbSNP: rs11105368
rs11105368
ATP2B1
1 12 89680664 intron variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs11124945
rs11124945
PLEKHH2
3 1.000 0.040 2 43650017 intron variant A/G snv 0.21 0.700 1.000 1 2018 2018
dbSNP: rs11191580
rs11191580
NT5C2
12 0.827 0.040 10 103146454 intron variant T/C snv 7.9E-02 0.700 1.000 1 2018 2018
dbSNP: rs11191593
rs11191593
NT5C2
4 10 103179458 intron variant T/C snv 9.0E-02 0.700 1.000 1 2018 2018
dbSNP: rs115236533
rs115236533
CDH18
3 5 19745606 intron variant G/C snv 3.9E-03 0.700 1.000 1 2017 2017
dbSNP: rs115706913
rs115706913
SGCZ
1 8 14224308 intron variant T/C snv 2.7E-02 0.700 1.000 1 2017 2017