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: rs80265967
rs80265967
SOD1
16 0.732 0.200 21 31667290 missense variant A/C;T snv 1.4E-03 1.2E-03 0.010 1.000 1 2001 2001
dbSNP: rs112913018
rs112913018
MOG
1 1.000 0.080 6 29670324 missense variant T/A;C snv 5.7E-04; 2.8E-03 0.010 1.000 1 2002 2002
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.010 1.000 1 2002 2002
dbSNP: rs148561683
rs148561683
PTPRC
1 1.000 0.080 1 198703360 missense variant A/C;G snv 5.3E-04; 1.2E-05 0.010 1.000 1 2003 2003
dbSNP: rs4915154
rs4915154
PTPRC
1 1.000 0.080 1 198702524 missense variant A/G snv 4.3E-02 1.8E-02 0.010 1.000 1 2003 2003
dbSNP: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 1.000 1 2003 2003
dbSNP: rs753269867
rs753269867
THBS1
2 0.925 0.080 15 39582202 missense variant G/C snv 6.3E-05 0.010 1.000 1 2003 2003
dbSNP: rs1275561861
rs1275561861
HLA-A
23 0.672 0.360 6 29944350 missense variant G/A snv 0.010 1.000 1 2004 2004
dbSNP: rs148038936
rs148038936
ITGB2 ; LOC107987303
2 1.000 0.080 21 44910354 missense variant G/A;C snv 2.4E-05; 1.6E-04 0.010 1.000 1 2004 2004
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 1.000 1 2004 2004
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.020 1.000 2 2003 2005
dbSNP: rs5938
rs5938
PTAFR
5 0.827 0.200 1 28150351 missense variant G/T snv 8.0E-03 2.5E-03 0.010 1.000 1 2005 2005
dbSNP: rs133945
rs133945
SYN3
1 1.000 0.080 22 33006858 intron variant C/T snv 0.45 0.010 1.000 1 2006 2006
dbSNP: rs133946
rs133946
SYN3
1 1.000 0.080 22 33007293 intron variant G/A;C snv 0.010 1.000 1 2006 2006
dbSNP: rs1445081098
rs1445081098
COMT ; MIR4761
17 0.724 0.480 22 19963746 missense variant G/C snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs2228315
rs2228315
SELPLG
7 0.807 0.120 12 108624122 missense variant C/T snv 0.11 0.14 0.010 1.000 1 2006 2006
dbSNP: rs749437638
rs749437638
ARVCF ; COMT
14 0.752 0.240 22 19968597 missense variant C/T snv 2.4E-05 1.4E-05 0.010 1.000 1 2006 2006
dbSNP: rs10500817
rs10500817
LOC102724957
1 1.000 0.080 11 15626589 intron variant T/C snv 0.12 0.700 1.000 1 2007 2007
dbSNP: rs1050391
rs1050391
HLA-DMA ; HLA-DMB
1 1.000 0.080 6 32950080 non coding transcript exon variant A/G snv 0.93 0.700 1.000 1 2007 2007
dbSNP: rs1059174
rs1059174
HLA-F ; HLA-F-AS1
1 1.000 0.080 6 29726650 non coding transcript exon variant C/A;T snv 0.700 1.000 1 2007 2007
dbSNP: rs10823051
rs10823051
CTNNA3
1 1.000 0.080 10 67504839 intron variant G/C snv 0.13 0.700 1.000 1 2007 2007
dbSNP: rs113994049
rs113994049
EIF2B5
4 0.882 0.160 3 184137637 missense variant G/A snv 2.1E-04 2.7E-04 0.010 1.000 1 2007 2007
dbSNP: rs11539216
rs11539216
HLA-DMA ; HLA-DMB
1 1.000 0.080 6 32950203 non coding transcript exon variant G/A snv 3.9E-02 0.700 1.000 1 2007 2007
dbSNP: rs11949767
rs11949767
MXD3
3 1.000 0.080 5 177313243 upstream gene variant A/C;G snv 0.700 1.000 1 2007 2007
dbSNP: rs132630295
rs132630295
PLP1 ; RAB9B
1 1.000 0.080 X 103786682 missense variant C/T snv 0.010 1.000 1 2007 2007