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: rs1251794140
rs1251794140
MOG
1 1.000 0.080 6 29659504 missense variant C/T snv 8.1E-06 7.0E-06 0.020 1.000 2 2004 2005
dbSNP: rs182420962
rs182420962
MOG
1 1.000 0.080 6 29659441 missense variant C/G;T snv 3.0E-04; 4.1E-06 0.020 1.000 2 2004 2005
dbSNP: rs1136758
rs1136758
HLA-DRB1
1 1.000 0.080 6 32584355 missense variant T/A;C;G snv 0.25; 2.7E-02; 4.7E-05; 1.6E-05; 7.6E-03 0.010 1.000 1 2004 2004
dbSNP: rs1194494874
rs1194494874
MBP
1 1.000 0.080 18 77016888 missense variant A/G snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs1418474769
rs1418474769
GJC2
3 1.000 0.080 1 228157761 start lost G/T snv 0.010 1.000 1 2015 2015
dbSNP: rs368311455
rs368311455
CPT2
4 0.882 0.200 1 53211185 missense variant C/T snv 3.2E-05 2.8E-05 0.010 1.000 1 2019 2019
dbSNP: rs80356779
rs80356779
CPT1A
10 0.776 0.320 11 68780662 missense variant G/A snv 3.2E-05 5.6E-05 0.010 1.000 1 2019 2019