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: rs2960308
rs2960308
GRK4
1 1.000 0.120 4 2989313 intron variant G/A snv 0.48 0.700 1.000 1 2012 2012
dbSNP: rs3095073
rs3095073
MSANTD1
1 1.000 0.120 4 3261411 missense variant G/A snv 0.33 0.33 0.700 1.000 1 2012 2012
dbSNP: rs3095079
rs3095079
MSANTD1
1 1.000 0.120 4 3263687 intron variant C/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs3129308
rs3129308
RGS12
1 1.000 0.120 4 3307545 intron variant G/A snv 0.66 0.700 1.000 1 2012 2012
dbSNP: rs3129319
rs3129319
MSANTD1
1 1.000 0.120 4 3263654 intron variant A/G snv 0.37 0.700 1.000 1 2012 2012
dbSNP: rs3135146
rs3135146
RGS12
1 1.000 0.120 4 3305911 intron variant C/A;G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs362272
rs362272
HTT
2 1.000 0.120 4 3233253 missense variant G/A;T snv 0.29 0.700 1.000 1 2012 2012
dbSNP: rs363066
rs363066
HTT
1 1.000 0.120 4 3134226 intron variant T/A;G snv 0.700 1.000 1 2012 2012
dbSNP: rs363092
rs363092
HTT
2 1.000 0.120 4 3194302 intron variant A/C;T snv 0.51 0.700 1.000 1 2012 2012
dbSNP: rs363096
rs363096
HTT
1 1.000 0.120 4 3178294 splice region variant T/C snv 0.55 0.60 0.700 1.000 1 2012 2012
dbSNP: rs3856973
rs3856973
HTT
1 1.000 0.120 4 3078446 intron variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs6446740
rs6446740
RGS12
1 1.000 0.120 4 3407656 intron variant G/A snv 0.57 0.700 1.000 1 2012 2012
dbSNP: rs6855981
rs6855981
HTT
2 1.000 0.120 4 3146549 intron variant G/A snv 0.34 0.700 1.000 1 2012 2012
dbSNP: rs704352
rs704352
RNF4
1 1.000 0.120 4 2484759 intron variant C/A;T snv 0.20 0.700 1.000 1 2012 2012
dbSNP: rs73786719
rs73786719
ADGB
1 1.000 0.120 6 146716848 intron variant C/A snv 1.7E-02 3.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs7435601
rs7435601
RGS12
1 1.000 0.120 4 3367918 intron variant T/C snv 0.70 0.700 1.000 1 2012 2012
dbSNP: rs762847
rs762847
ADD1
1 1.000 0.120 4 2910336 intron variant A/G snv 0.54 0.700 1.000 1 2012 2012
dbSNP: rs7658462
rs7658462 		1 1.000 0.120 4 3281695 intergenic variant C/T snv 0.16 0.700 1.000 1 2012 2012
dbSNP: rs82333
rs82333
HTT
1 1.000 0.120 4 3223662 intron variant A/C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs916171
rs916171
HTT
1 1.000 0.120 4 3215088 intron variant C/G snv 0.42 0.47 0.700 1.000 1 2012 2012
dbSNP: rs71180116
rs71180116
HTT ; HTT-AS
1 1.000 0.120 4 3074877 inframe insertion GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA/-;GCA;GCAGCA;GCAGCAGCA;GCAGCAGCAGCA;GCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA delins 0.14 0.700 0
dbSNP: rs104893877
rs104893877
SNCA
59 0.614 0.360 4 89828149 missense variant C/T snv 0.030 1.000 3 2007 2013
dbSNP: rs5030732
rs5030732
UCHL1 ; UCHL1-AS1
10 0.790 0.160 4 41257616 missense variant C/A snv 0.24 0.16 0.030 1.000 3 2002 2009
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: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 1.000 2 2005 2005