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: rs6590811
rs6590811
ARHGAP42
4 11 100708153 intron variant C/T snv 0.53 0.700 1.000 1 2018 2018
dbSNP: rs6590812
rs6590812
ARHGAP42
1 11 100711497 intron variant G/A snv 0.55 0.700 1.000 1 2018 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: rs6590816
rs6590816
ARHGAP42
4 11 100730902 intron variant G/A snv 0.40 0.700 1.000 1 2018 2018
dbSNP: rs604723
rs604723
ARHGAP42
9 1.000 0.040 11 100739815 intron variant T/C snv 0.78 0.700 1.000 1 2018 2018
dbSNP: rs7801190
rs7801190
SLC12A9
2 1.000 0.040 7 100860471 non coding transcript exon variant C/G snv 9.9E-02 0.700 1.000 1 2011 2011
dbSNP: rs13107325
rs13107325
SLC39A8
30 0.776 0.520 4 102267552 missense variant C/A;T snv 4.0E-06; 4.5E-02 0.800 1.000 1 2011 2011
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: 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: rs11191548
rs11191548
CNNM2
7 0.882 0.080 10 103086421 3 prime UTR variant T/C snv 8.6E-02 0.780 1.000 1 2011 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: rs12219304
rs12219304
NT5C2
1 10 103171827 intron variant G/C;T snv 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: rs112913898
rs112913898 		3 10 103199143 intergenic variant G/A snv 9.1E-02 0.700 1.000 1 2018 2018
dbSNP: rs4387287
rs4387287
STN1
3 10 103918139 5 prime UTR variant A/C snv 0.69 0.700 1.000 1 2016 2016
dbSNP: rs28868104
rs28868104 		2 1.000 0.080 3 104241993 intergenic variant C/T snv 0.17 0.700 1.000 1 2019 2019
dbSNP: rs530391015
rs530391015
INF2
5 0.882 0.080 14 104703445 stop gained G/A;C;T snv 4.0E-06 0.700 0
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: rs12046278
rs12046278
CASZ1
3 1 10739520 intron variant T/C snv 0.36 0.700 1.000 1 2019 2019
dbSNP: rs281874674
rs281874674
COL4A5
8 0.827 0.280 X 108597479 missense variant G/C;T snv 0.700 0
dbSNP: rs104886142
rs104886142
COL4A5
4 0.790 0.280 X 108598793 missense variant G/A snv 8.7E-05 4.7E-05 0.700 0
dbSNP: rs1887320
rs1887320 		6 20 10985350 intron variant G/A snv 0.46 0.700 1.000 1 2018 2018
dbSNP: rs1057523354
rs1057523354
COL4A1
13 0.763 0.480 13 110179387 missense variant C/A snv 0.700 0
dbSNP: rs10033366
rs10033366
ENPEP
1 4 110409934 intron variant T/C snv 0.92 0.700 1.000 1 2018 2018
dbSNP: rs7690819
rs7690819 		3 1.000 0.040 4 111199502 intergenic variant A/G;T snv 0.700 1.000 1 2014 2014