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: rs1416580204
rs1416580204
MOK
49 0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs2070600
rs2070600
AGER
82 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 0.010 1.000 1 2010 2010
dbSNP: rs2241880
rs2241880
ATG16L1 ; SCARNA5
37 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.010 1.000 1 2010 2010
dbSNP: rs568408
rs568408
IL12A ; IL12A-AS1
29 0.649 0.600 3 159995680 3 prime UTR variant G/A snv 0.16 0.030 1.000 3 2012 2017
dbSNP: rs3212227
rs3212227
IL12B
65 0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 0.020 1.000 2 2012 2013
dbSNP: rs10015979
rs10015979
HTT
1 1.000 0.120 4 3107715 intron variant A/G snv 0.30 0.700 1.000 1 2012 2012
dbSNP: rs10934657
rs10934657
KALRN
1 1.000 0.120 3 124093989 intron variant T/C snv 0.60 0.010 1.000 1 2012 2012
dbSNP: rs10937921
rs10937921 		2 1.000 0.120 4 3274764 downstream gene variant C/T snv 0.40 0.700 1.000 1 2012 2012
dbSNP: rs110501
rs110501
HTT
1 1.000 0.120 4 3223751 intron variant T/C snv 0.47 0.700 1.000 1 2012 2012
dbSNP: rs11248108
rs11248108
RNF4
1 1.000 0.120 4 2479763 intron variant G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs1138690
rs1138690 		1 1.000 0.120 4 3289674 upstream gene variant G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs11731237
rs11731237
HTT
1 1.000 0.120 4 3150086 intron variant C/T snv 0.26 0.700 1.000 1 2012 2012
dbSNP: rs12641989
rs12641989
RGS12
1 1.000 0.120 4 3418113 non coding transcript exon variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs1419046
rs1419046
GRK4
1 1.000 0.120 4 2984322 intron variant T/A snv 0.39 0.700 1.000 1 2012 2012
dbSNP: rs16844309
rs16844309
RGS12
1 1.000 0.120 4 3416539 intron variant G/A snv 0.26 0.700 1.000 1 2012 2012
dbSNP: rs1730768
rs1730768
RGS12
1 1.000 0.120 4 3407632 intron variant A/G snv 0.85 0.700 1.000 1 2012 2012
dbSNP: rs189139
rs189139
SH3BP2
2 0.925 0.160 4 2831000 intron variant C/T snv 0.26 0.700 1.000 1 2012 2012
dbSNP: rs2071655
rs2071655
HTT
1 1.000 0.120 4 3116389 intron variant T/A;G snv 0.700 1.000 1 2012 2012
dbSNP: rs2269499
rs2269499
HTT
1 1.000 0.120 4 3237975 intron variant C/T snv 0.24 0.700 1.000 1 2012 2012
dbSNP: rs2273773
rs2273773
SIRT1
9 0.790 0.360 10 67906841 synonymous variant T/C snv 0.11 7.1E-02 0.010 1.000 1 2012 2012
dbSNP: rs2285086
rs2285086
HTT
1 1.000 0.120 4 3087532 intron variant A/G snv 0.48 0.700 1.000 1 2012 2012
dbSNP: rs2298969
rs2298969
HTT
1 1.000 0.120 4 3184517 intron variant A/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs2471336
rs2471336
GRK4
1 1.000 0.120 4 2995884 intron variant T/C snv 0.32 0.700 1.000 1 2012 2012
dbSNP: rs2471347
rs2471347
HTT
1 1.000 0.120 4 3042708 intron variant G/A snv 0.68 0.700 1.000 1 2012 2012
dbSNP: rs2749782
rs2749782
RGS12
1 1.000 0.120 4 3338034 intron variant T/C snv 0.70 0.700 1.000 1 2012 2012