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: rs3130253
rs3130253
MOG
3 0.925 0.120 6 29666235 missense variant A/G;T snv 0.95; 4.1E-06 0.700 1.000 1 2012 2012
dbSNP: rs2228445
rs2228445
ATP2B4
2 1 203698281 synonymous variant T/A;C snv 0.89 0.700 1.000 1 2012 2012
dbSNP: rs1419114
rs1419114
ATP2B4
3 1 203683316 synonymous variant A/G snv 0.88 0.83 0.700 1.000 1 2012 2012
dbSNP: rs651821
rs651821
APOA5
17 0.851 0.360 11 116791863 5 prime UTR variant C/T snv 0.88 0.89 0.700 1.000 1 2018 2018
dbSNP: rs2571381
rs2571381
HLA-A
1 6 29945053 splice region variant T/A;C snv 0.85 0.700 1.000 1 2012 2012
dbSNP: rs221794
rs221794
GIGYF1
1 7 100684145 synonymous variant T/C snv 0.85 0.86 0.700 1.000 1 2012 2012
dbSNP: rs743725
rs743725
NPRL3
1 16 86889 intron variant T/A;C snv 4.2E-06; 0.80 0.700 1.000 1 2012 2012
dbSNP: rs695871
rs695871
ATXN2 ; ATXN2-AS
2 1.000 0.080 12 111599196 missense variant G/C snv 0.77 0.61 0.700 1.000 1 2012 2012
dbSNP: rs2242345
rs2242345
ERAL1
1 17 28858809 synonymous variant C/T snv 0.77 0.81 0.700 1.000 1 2012 2012
dbSNP: rs2074504
rs2074504
PRR3
1 6 30562468 synonymous variant T/C snv 0.72 0.74 0.700 1.000 1 2012 2012
dbSNP: rs2230655
rs2230655
H2AC4 ; H3C2
5 0.882 0.160 6 26033278 synonymous variant G/A snv 0.71 0.76 0.700 1.000 1 2012 2012
dbSNP: rs2213284
rs2213284
H3C2
4 0.925 0.120 6 26031640 3 prime UTR variant G/A snv 0.70 0.76 0.700 1.000 1 2012 2012
dbSNP: rs907094
rs907094
PPP1R1B
2 1.000 0.040 17 39634118 intron variant G/A snv 0.69 0.60 0.700 1.000 1 2012 2012
dbSNP: rs12151021
rs12151021
ABCA7
3 19 1050875 intron variant A/G;T snv 0.69 0.700 1.000 1 2018 2018
dbSNP: rs10425
rs10425
H1-2
4 0.925 0.120 6 26056321 synonymous variant A/G snv 0.68 0.73 0.700 1.000 1 2012 2012
dbSNP: rs15583
rs15583
RCL1
1 9 4860300 3 prime UTR variant A/G snv 0.67 0.64 0.700 1.000 1 2012 2012
dbSNP: rs2032447
rs2032447
H2BC3 ; H3C3 ; H2AC5P
6 0.925 0.120 6 26044141 non coding transcript exon variant A/G snv 4.1E-06; 0.67 0.67 0.700 1.000 1 2012 2012
dbSNP: rs2120282
rs2120282
SPECC1
1 17 20306161 3 prime UTR variant C/T snv 0.67 0.71 0.700 1.000 1 2012 2012
dbSNP: rs2703791
rs2703791
SPECC1
1 17 20260216 synonymous variant A/G snv 0.67 0.71 0.700 1.000 1 2012 2012
dbSNP: rs2703806
rs2703806
SPECC1
1 17 20204926 missense variant A/T snv 0.67 0.71 0.700 1.000 1 2012 2012
dbSNP: rs1053651
rs1053651
PNMT ; TCAP
1 17 39666058 synonymous variant A/C;G snv 0.67 0.700 1.000 1 2012 2012
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2012 2012
dbSNP: rs2965214
rs2965214
SYCE2 ; MIR5695
2 19 12918374 intron variant G/A snv 0.66 0.64 0.700 1.000 1 2012 2012
dbSNP: rs2293683
rs2293683
FARSA
3 19 12928470 non coding transcript exon variant A/G snv 0.65 0.64 0.700 1.000 1 2012 2012
dbSNP: rs2782
rs2782
SCO2 ; NCAPH2
2 22 50523425 3 prime UTR variant T/C snv 0.64 0.63 0.700 1.000 1 2012 2012