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: rs4010613
rs4010613
ABCD1
1 1.000 0.160 X 153743055 missense variant C/A;T snv 0.800 1.000 12 1994 2012
dbSNP: rs1557055260
rs1557055260
ABCD1
1 1.000 0.160 X 153743032 missense variant A/G snv 0.800 1.000 6 1995 2012
dbSNP: rs1569541088
rs1569541088
ABCD1
1 1.000 0.160 X 153740137 missense variant G/A snv 0.700 1.000 4 1996 2012
dbSNP: rs1131691916
rs1131691916
ABCD1 ; BCAP31
1 1.000 0.160 X 153725831 missense variant C/T snv 0.800 1.000 3 2000 2012
dbSNP: rs1557052294
rs1557052294
ABCD1 ; BCAP31
1 1.000 0.160 X 153725559 missense variant C/T snv 0.800 1.000 3 1996 2012
dbSNP: rs193922098
rs193922098
ABCD1 ; BCAP31
1 1.000 0.160 X 153726104 missense variant C/A;G;T snv 7.8E-06; 1.6E-05 0.800 1.000 3 2001 2012
dbSNP: rs1557055405
rs1557055405
ABCD1
21 0.807 0.400 X 153743532 missense variant T/A snv 0.800 1.000 2 1998 2012
dbSNP: rs1569540704
rs1569540704
ABCD1 ; BCAP31
1 1.000 0.160 X 153725859 missense variant C/T snv 0.700 1.000 2 2001 2012
dbSNP: rs781862879
rs781862879
ABCD1
1 1.000 0.160 X 153740200 missense variant A/C snv 5.5E-06 9.4E-06 0.700 1.000 2 2012 2012
dbSNP: rs1064793877
rs1064793877
ABCD1
1 1.000 0.160 X 153743250 missense variant C/T snv 0.800 1.000 1 2012 2012
dbSNP: rs1131691954
rs1131691954
ABCD1 ; BCAP31
1 1.000 0.160 X 153726146 missense variant G/A snv 0.700 1.000 1 2012 2012
dbSNP: rs1799864
rs1799864
CCR2
68 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.010 1.000 1 2012 2012
dbSNP: rs193922097
rs193922097
ABCD1 ; BCAP31
1 1.000 0.160 X 153725687 missense variant G/A snv 0.800 1.000 1 2012 2012
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 < 0.001 1 2012 2012
dbSNP: rs973742
rs973742 		2 0.925 0.160 1 158190738 downstream gene variant G/A snv 0.42 0.010 < 0.001 1 2012 2012
dbSNP: rs387906494
rs387906494
ABCD1
1 1.000 0.160 X 153737178 frameshift variant AG/- del 0.700 1.000 8 1994 2013
dbSNP: rs1131691743
rs1131691743
ABCD1 ; BCAP31
1 1.000 0.160 X 153726027 missense variant C/T snv 0.800 1.000 3 1996 2013
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2013 2013
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 2013 2013
dbSNP: rs713993050
rs713993050
ABCD1 ; BCAP31
1 1.000 0.160 X 153725514 frameshift variant -/C delins 0.700 1.000 45 1981 2014
dbSNP: rs1569541203
rs1569541203
ABCD1
1 1.000 0.160 X 153743333 missense variant C/T snv 0.700 1.000 15 1995 2014
dbSNP: rs1557052390
rs1557052390
ABCD1 ; BCAP31
1 1.000 0.160 X 153725787 missense variant A/G snv 0.800 1.000 9 1994 2014
dbSNP: rs2228603
rs2228603
NCAN
12 0.790 0.360 19 19219115 missense variant C/A;T snv 2.8E-05; 5.9E-02 0.010 1.000 1 2014 2014
dbSNP: rs11146842
rs11146842
ABCD1
1 1.000 0.160 X 153743056 missense variant G/A snv 0.800 1.000 10 1994 2015
dbSNP: rs1557052302
rs1557052302
ABCD1 ; BCAP31
1 1.000 0.160 X 153725577 missense variant G/A snv 0.800 1.000 9 1995 2015