Source: CURATED ×
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: 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: rs12668183
rs12668183 		1 1.000 0.120 7 16455781 regulatory region variant T/C snv 0.34 0.700 1.000 1 2018 2018
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: 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: 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: 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: 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: 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: 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: rs2857845
rs2857845
GRK4
1 1.000 0.120 4 3026386 intron variant A/T snv 0.11 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: rs2798296
rs2798296
HTT ; HTT-AS
1 1.000 0.120 4 3060438 intron variant A/G snv 0.44 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: rs3856973
rs3856973
HTT
1 1.000 0.120 4 3078446 intron variant G/A;C snv 0.700 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: rs150393409
rs150393409
FAN1
1 0.882 0.200 15 30910758 missense variant G/A;C snv 6.6E-03; 6.0E-05 0.700 1.000 1 2018 2018
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: rs2071655
rs2071655
HTT
1 1.000 0.120 4 3116389 intron variant T/A;G snv 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: 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: 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: 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: rs2298969
rs2298969
HTT
1 1.000 0.120 4 3184517 intron variant A/G;T 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: 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