RHOA, ras homolog family member A, 387

N. diseases: 193; N. variants: 16
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: rs3811699
rs3811699
1.000 0.040 3 49358927 upstream gene variant T/C snv 0.30
CUI: C2745963
Disease: Kashin-Beck Disease
Kashin-Beck Disease
Musculoskeletal Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs3448
rs3448
0.776 0.240 3 49359318 3 prime UTR variant T/C snv 0.76
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs3448
rs3448
0.776 0.240 3 49359318 3 prime UTR variant T/C snv 0.76
CUI: C4553752
Disease: Stage IV Prostate Cancer AJCC v8
Stage IV Prostate Cancer AJCC v8
0.010 1.000 1 2015 2015
dbSNP: rs3448
rs3448
0.776 0.240 3 49359318 3 prime UTR variant T/C snv 0.76
CUI: C0278837
Disease: Stage IV Prostate Carcinoma
Stage IV Prostate Carcinoma
Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3448
rs3448
0.776 0.240 3 49359318 3 prime UTR variant T/C snv 0.76
CUI: C3146264
Disease: Stage IV Prostate Cancer AJCC v7
Stage IV Prostate Cancer AJCC v7
0.010 1.000 1 2015 2015
dbSNP: rs3448
rs3448
0.776 0.240 3 49359318 3 prime UTR variant T/C snv 0.76
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs3448
rs3448
0.776 0.240 3 49359318 3 prime UTR variant T/C snv 0.76
Diabetes Mellitus, Insulin-Dependent
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs3448
rs3448
0.776 0.240 3 49359318 3 prime UTR variant T/C snv 0.76
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs3448
rs3448
0.776 0.240 3 49359318 3 prime UTR variant T/C snv 0.76
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1413407735
rs1413407735
1.000 0.080 3 49360964 missense variant T/G snv 7.0E-06
CUI: C0020981
Disease: Angioimmunoblastic Lymphadenopathy
Angioimmunoblastic Lymphadenopathy
Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1987628
rs1987628
3 49361826 intron variant G/A snv 0.28
CUI: C0021704
Disease: Intelligence
Intelligence
Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs974495
rs974495
1.000 0.040 3 49363049 intron variant T/C snv 0.73
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle
Eye Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2878298
rs2878298
1.000 0.080 3 49368647 intron variant T/C snv 0.43
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence
Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2007 2007
dbSNP: rs1057519954
rs1057519954
0.882 0.160 3 49375465 missense variant T/A;C;G snv
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519954
rs1057519954
0.882 0.160 3 49375465 missense variant T/A;C;G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1057519954
rs1057519954
0.882 0.160 3 49375465 missense variant T/A;C;G snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma
Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519954
rs1057519954
0.882 0.160 3 49375465 missense variant T/A;C;G snv
Squamous cell carcinoma of the head and neck
Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519951
rs1057519951
0.882 0.080 3 49375472 missense variant C/G;T snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma
Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519951
rs1057519951
0.882 0.080 3 49375472 missense variant C/G;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519951
rs1057519951
0.882 0.080 3 49375472 missense variant C/G;T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519951
rs1057519951
0.882 0.080 3 49375472 missense variant C/G;T snv
Squamous cell carcinoma of the head and neck
Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519953
rs1057519953
0.807 0.200 3 49375576 missense variant C/A;T snv
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma
Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519953
rs1057519953
0.807 0.200 3 49375576 missense variant C/A;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519953
rs1057519953
0.807 0.200 3 49375576 missense variant C/A;T snv
CUI: C0278879
Disease: Childhood Burkitt Lymphoma
Childhood Burkitt Lymphoma
Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1057519953
rs1057519953
0.807 0.200 3 49375576 missense variant C/A;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016