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: 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: 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: 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: 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: 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: 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
1 1.000 0.120 4 3060438 intron variant A/G snv 0.44 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: 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: 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
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: rs1210554604
rs1210554604
HTT
1 1.000 0.120 4 3131662 missense variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs13102260
rs13102260
1 1.000 0.120 4 3074678 intron variant G/A snv 0.15 0.010 1.000 1 2015 2015
dbSNP: rs1313770
rs1313770
1 1.000 0.120 4 3056082 intron variant A/G snv 0.57 0.010 1.000 1 2005 2005