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: rs16828074
rs16828074
NCL
1 1.000 0.040 2 231454043 3 prime UTR variant C/G;T snv 0.800 1.000 1 2013 2013
dbSNP: rs1868790
rs1868790
1 1.000 0.040 4 61828999 intron variant T/A;G snv 0.010 1.000 1 2019 2019
dbSNP: rs200508662
rs200508662
1 1.000 0.040 5 121055487 upstream gene variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs201391000
rs201391000
2 0.925 0.080 22 19877157 missense variant C/A;T snv 2.3E-04 0.010 1.000 1 1994 1994
dbSNP: rs2097603
rs2097603
3 0.882 0.040 22 19940569 intron variant G/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs2199161
rs2199161
1 1.000 0.040 5 72114529 intron variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs2270112
rs2270112
STS
1 1.000 0.040 X 7252884 intron variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs227283
rs227283
2 0.925 0.120 4 102686096 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2283728
rs2283728
1 1.000 0.040 X 43773881 intron variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs2295633
rs2295633
7 0.827 0.120 1 46408711 intron variant A/G;T snv 0.010 1.000 1 2020 2020
dbSNP: rs2410116
rs2410116
1 1.000 0.040 8 13815938 intergenic variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs27072
rs27072
11 0.807 0.120 5 1394407 3 prime UTR variant C/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs2721800
rs2721800
5 0.851 0.040 7 24652933 intron variant G/A;C;T snv 0.800 1.000 1 2013 2013
dbSNP: rs281323
rs281323
1 1.000 0.040 15 47461830 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs28612433
rs28612433
1 1.000 0.040 4 25262751 intron variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs3047819
rs3047819
1 1.000 0.040 5 88879383 intron variant TATA/-;TA;TATATA delins 0.700 1.000 1 2018 2018
dbSNP: rs3130253
rs3130253
MOG
3 0.925 0.120 6 29666235 missense variant A/G;T snv 0.95; 4.1E-06 0.010 1.000 1 2001 2001
dbSNP: rs3743078
rs3743078
7 0.807 0.160 15 78602417 intron variant C/A;G snv 0.010 1.000 1 2014 2014
dbSNP: rs3749034
rs3749034
6 0.827 0.040 2 170816965 5 prime UTR variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs3772475
rs3772475
1 1.000 0.040 3 59970823 intron variant C/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs3813929
rs3813929
5 0.851 0.240 X 114584047 upstream gene variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs3836790
rs3836790
5 0.882 0.080 5 1411740 intron variant -/ACATACACACTCAGACACACATACCATGCA ins 0.010 1.000 1 2014 2014
dbSNP: rs4259397
rs4259397
2 0.925 0.040 8 92354062 upstream gene variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs4275621
rs4275621
1 1.000 0.040 11 28631449 regulatory region variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs45564432
rs45564432
1 1.000 0.040 16 55691982 missense variant C/A;G;T snv 4.0E-06; 1.4E-03; 8.0E-05 0.010 1.000 1 2009 2009