RNF40, ring finger protein 40, 9810

N. diseases: 17; N. variants: 6
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: rs1167052126
rs1167052126 		0.925 0.080 16 30783980 missense variant C/G snv
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1167052126
rs1167052126 		0.925 0.080 16 30783980 missense variant C/G snv
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
Amyotrophic Lateral Sclerosis, Familial 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1377510319
rs1377510319 		16 30782004 missense variant G/A;C snv 4.7E-06
CUI: C0271680
Disease: Diabetic Polyneuropathies
Diabetic Polyneuropathies 		Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs56656810
rs56656810 		1.000 0.120 16 30777438 upstream gene variant C/A;T snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs773132865
rs773132865 		1.000 0.040 16 30783312 missense variant G/A;C;T snv 4.0E-06; 4.0E-06
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs866982082
rs866982082 		1.000 0.160 16 30783282 missense variant A/G snv 4.8E-05
CUI: C1848411
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2000 2000
dbSNP: rs987587846
rs987587846 		0.925 0.080 16 30784206 missense variant C/G snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2018 2018
dbSNP: rs987587846
rs987587846 		0.925 0.080 16 30784206 missense variant C/G snv
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018