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: rs1535464
rs1535464
SLC25A47
2 14 100327094 intron variant G/A snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs735877
rs735877
PKD2L1
1 10 100344764 intron variant C/T snv 0.39 0.46 0.700 1.000 1 2016 2016
dbSNP: rs17554326
rs17554326
WARS1 ; WDR25
1 14 100376040 5 prime UTR variant A/G snv 0.16 0.700 1.000 1 2018 2018
dbSNP: rs670401
rs670401
ARHGAP42
3 11 100701679 intron variant A/G snv 0.76 0.700 1.000 1 2018 2018
dbSNP: rs6590811
rs6590811
ARHGAP42
4 11 100708153 intron variant C/T snv 0.53 0.700 1.000 2 2018 2018
dbSNP: rs1502284
rs1502284
ARHGAP42
2 11 100713419 intron variant T/A;G snv 0.700 1.000 1 2018 2018
dbSNP: rs633185
rs633185
ARHGAP42
10 0.925 0.080 11 100722807 intron variant G/A;C snv 0.700 1.000 3 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 3 2015 2018
dbSNP: rs35225200
rs35225200 		5 1.000 0.040 4 102225731 intergenic variant A/C snv 5.4E-02 0.700 1.000 1 2018 2018
dbSNP: rs13107325
rs13107325
SLC39A8
34 0.776 0.520 4 102267552 missense variant C/A;T snv 4.0E-06; 4.5E-02 0.700 1.000 3 2011 2018
dbSNP: rs17693945
rs17693945
MSRA
1 8 10248500 intron variant C/T snv 0.30 0.700 1.000 1 2018 2018
dbSNP: rs4919669
rs4919669
ARL3
2 10 102712218 intron variant T/A;C snv 0.700 1.000 2 2017 2018
dbSNP: rs284844
rs284844
WBP1L
3 10 102794772 intron variant A/G snv 0.82 0.700 1.000 2 2017 2018
dbSNP: rs1004467
rs1004467
CYP17A1 ; CYP17A1-AS1
13 0.790 0.280 10 102834750 non coding transcript exon variant A/G snv 0.15 0.14 0.700 1.000 2 2016 2018
dbSNP: rs3824755
rs3824755
CYP17A1
5 0.925 0.120 10 102836092 intron variant G/A;C;T snv 0.700 1.000 1 2013 2013
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 2017 2018
dbSNP: rs12416687
rs12416687
AS3MT ; BORCS7-ASMT
2 10 102869254 intron variant T/C snv 0.21 0.700 1.000 1 2014 2014
dbSNP: rs17135875
rs17135875
FBXL13
3 7 102878584 intron variant T/C snv 0.24 0.700 1.000 1 2013 2013
dbSNP: rs11191548
rs11191548
CNNM2
10 0.882 0.080 10 103086421 3 prime UTR variant T/C snv 8.6E-02 0.700 1.000 1 2018 2018
dbSNP: rs11191580
rs11191580
NT5C2
13 0.827 0.040 10 103146454 intron variant T/C snv 7.9E-02 0.700 1.000 1 2018 2018
dbSNP: rs12416331
rs12416331
NT5C2
2 1.000 0.040 10 103169157 intron variant T/A snv 8.4E-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 3 2011 2018
dbSNP: rs112913898
rs112913898 		3 10 103199143 intergenic variant G/A snv 9.1E-02 0.700 1.000 2 2018 2018
dbSNP: rs9873831
rs9873831 		1 3 103269840 intergenic variant T/C snv 1.2E-02 0.700 1.000 1 2012 2012