HTT, huntingtin, 3064

N. diseases: 188; N. variants: 32
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs768047421
rs768047421
1.000 4 3131647 missense variant C/T snv 8.1E-05 3.5E-05
CUI: C4479491
Disease: LOPES-MACIEL-RODAN SYNDROME
LOPES-MACIEL-RODAN SYNDROME
0.800 0
dbSNP: rs362275
rs362275
4 3222875 intron variant C/T snv 0.24
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
0.700 1.000 2 2018 2019
dbSNP: rs10015979
rs10015979
1.000 0.120 4 3107715 intron variant A/G snv 0.30
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 1.000 1 2012 2012
dbSNP: rs110501
rs110501
1.000 0.120 4 3223751 intron variant T/C snv 0.47
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 1.000 1 2012 2012
dbSNP: rs113928896
rs113928896
4 3138682 intron variant C/T snv 9.4E-02
CUI: C0596887
Disease: mathematical ability
mathematical ability
0.700 1.000 1 2018 2018
dbSNP: rs11731237
rs11731237
1.000 0.120 4 3150086 intron variant C/T snv 0.26
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 1.000 1 2012 2012
dbSNP: rs2071655
rs2071655
1.000 0.120 4 3116389 intron variant T/A;G snv
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 1.000 1 2012 2012
dbSNP: rs2269499
rs2269499
1.000 0.120 4 3237975 intron variant C/T snv 0.24
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 1.000 1 2012 2012
dbSNP: rs2285086
rs2285086
1.000 0.120 4 3087532 intron variant A/G snv 0.48
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 1.000 1 2012 2012
dbSNP: rs2298969
rs2298969
1.000 0.120 4 3184517 intron variant A/G;T snv
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 1.000 1 2012 2012
dbSNP: rs2471347
rs2471347
1.000 0.120 4 3042708 intron variant G/A snv 0.68
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 1.000 1 2012 2012
dbSNP: rs2798296
rs2798296
1.000 0.120 4 3060438 intron variant A/G snv 0.44
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 1.000 1 2012 2012
dbSNP: rs3121419
rs3121419
4 3230530 intron variant C/T snv 0.24
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
0.700 1.000 1 2019 2019
dbSNP: rs362272
rs362272
1.000 0.120 4 3233253 missense variant G/A;T snv 0.29
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 1.000 1 2012 2012
dbSNP: rs362272
rs362272
1.000 0.120 4 3233253 missense variant G/A;T snv 0.29
CUI: C0474702
Disease: Sulfate measurement
Sulfate measurement
0.700 1.000 1 2016 2016
dbSNP: rs362307
rs362307
4 3240118 3 prime UTR variant C/T snv 5.5E-02
CUI: C0021704
Disease: Intelligence
Intelligence
Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs363066
rs363066
1.000 0.120 4 3134226 intron variant T/A;G snv
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 1.000 1 2012 2012
dbSNP: rs363092
rs363092
1.000 0.120 4 3194302 intron variant A/C;T snv 0.51
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
0.700 1.000 1 2019 2019
dbSNP: rs363092
rs363092
1.000 0.120 4 3194302 intron variant A/C;T snv 0.51
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 1.000 1 2012 2012
dbSNP: rs363096
rs363096
1.000 0.120 4 3178294 splice region variant T/C snv 0.55 0.60
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 1.000 1 2012 2012
dbSNP: rs3856973
rs3856973
1.000 0.120 4 3078446 intron variant G/A;C snv
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 1.000 1 2012 2012
dbSNP: rs55962025
rs55962025
4 3110382 intron variant A/C;T snv
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
0.700 1.000 1 2019 2019
dbSNP: rs6855981
rs6855981
1.000 0.120 4 3146549 intron variant G/A snv 0.34
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
0.700 1.000 1 2019 2019
dbSNP: rs6855981
rs6855981
1.000 0.120 4 3146549 intron variant G/A snv 0.34
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 1.000 1 2012 2012
dbSNP: rs7685686
rs7685686
1.000 0.040 4 3205415 intron variant A/G snv 0.50
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
Mental Disorders 0.700 1.000 1 2019 2019