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: rs82333
rs82333
HTT
1 1.000 0.120 4 3223662 intron variant A/C;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: 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: rs1730768
rs1730768
1 1.000 0.120 4 3407632 intron variant A/G snv 0.85 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: rs2798296
rs2798296
1 1.000 0.120 4 3060438 intron variant A/G snv 0.44 0.700 1.000 1 2012 2012
dbSNP: rs3129319
rs3129319
1 1.000 0.120 4 3263654 intron variant A/G snv 0.37 0.700 1.000 1 2012 2012
dbSNP: rs762847
rs762847
1 1.000 0.120 4 2910336 intron variant A/G snv 0.54 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: rs2857845
rs2857845
1 1.000 0.120 4 3026386 intron variant A/T snv 0.11 0.700 1.000 1 2012 2012
dbSNP: rs73786719
rs73786719
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: rs3135146
rs3135146
1 1.000 0.120 4 3305911 intron variant C/A;G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs704352
rs704352
1 1.000 0.120 4 2484759 intron variant C/A;T snv 0.20 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: rs3095079
rs3095079
1 1.000 0.120 4 3263687 intron variant C/G;T snv 0.700 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: 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: rs189139
rs189139
2 0.925 0.160 4 2831000 intron variant C/T snv 0.26 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: rs2857861
rs2857861
1 1.000 0.120 4 3322040 intron variant C/T snv 0.53 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: rs1232027
rs1232027
1 1.000 0.120 5 80619201 intron variant G/A snv 0.32 0.700 1.000 1 2017 2017
dbSNP: rs16844309
rs16844309
1 1.000 0.120 4 3416539 intron variant G/A snv 0.26 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: rs2798224
rs2798224
2 1.000 0.120 4 3265941 intron variant G/A snv 0.45 0.700 1.000 1 2012 2012