ATXN7, ataxin 7, 6314

N. diseases: 162; N. variants: 13
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: rs1053338
rs1053338 		1.000 0.080 3 63982224 missense variant A/G snv 0.14; 1.2E-05 0.10
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 2 2015 2017
dbSNP: rs112674299
rs112674299 		1.000 0.080 3 63996994 intron variant C/A;T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs2292662
rs2292662 		1.000 0.080 3 63911539 non coding transcript exon variant C/T snv 0.24
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs3733125
rs3733125 		3 63995959 synonymous variant C/T snv 9.7E-02 8.3E-02
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs3733125
rs3733125 		3 63995959 synonymous variant C/T snv 9.7E-02 8.3E-02
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs3774702
rs3774702 		3 63871194 intron variant G/A snv 0.21
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs3774726
rs3774726 		3 63988801 intron variant C/T snv 0.42
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs3821902
rs3821902 		1.000 0.080 3 63956021 intron variant T/G snv 0.10
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs4688181
rs4688181 		1.000 0.080 3 64003780 upstream gene variant A/G snv 3.1E-02
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.700 1.000 1 2020 2020
dbSNP: rs704364
rs704364 		1.000 0.040 3 63889058 intron variant A/G snv 0.60
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs704373
rs704373 		1.000 0.040 3 63881679 intron variant A/G;T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs1390860312
rs1390860312 		1.000 0.080 3 63982229 missense variant G/A snv 7.0E-06
CUI: C0752125
Disease: Spinocerebellar Ataxia Type 7
Spinocerebellar Ataxia Type 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3774729
rs3774729 		1.000 0.080 3 63996406 missense variant G/A;T snv 0.34; 8.0E-06
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs6798742
rs6798742 		1.000 0.080 3 63918083 intron variant A/G snv 0.42
CUI: C0752125
Disease: Spinocerebellar Ataxia Type 7
Spinocerebellar Ataxia Type 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2017 2017