P4HB, prolyl 4-hydroxylase subunit beta, 5034

N. diseases: 222; 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: rs786204843
rs786204843 		0.925 0.200 17 81845742 missense variant T/C snv
CUI: C4317154
Disease: COLE-CARPENTER SYNDROME 1
COLE-CARPENTER SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 0
dbSNP: rs876016
rs876016 		0.925 0.080 17 81852587 intron variant A/G snv 0.23
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.020 1.000 2 2013 2016
dbSNP: rs2070872
rs2070872 		0.925 0.080 17 81846845 intron variant A/G snv 0.26
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2070872
rs2070872 		0.925 0.080 17 81846845 intron variant A/G snv 0.26
CUI: C1862941
Disease: Amyotrophic Lateral Sclerosis, Sporadic
Amyotrophic Lateral Sclerosis, Sporadic 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs371977426
rs371977426 		0.882 0.080 17 81859255 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs371977426
rs371977426 		0.882 0.080 17 81859255 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C2921627
Disease: Clinically isolated syndrome
Clinically isolated syndrome 		0.010 1.000 1 2008 2008
dbSNP: rs371977426
rs371977426 		0.882 0.080 17 81859255 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C3889136
Disease: Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome 		0.010 1.000 1 2008 2008
dbSNP: rs573703484
rs573703484 		1.000 0.040 17 81845659 missense variant C/T snv 2.4E-05 1.4E-05
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs786204843
rs786204843 		0.925 0.200 17 81845742 missense variant T/C snv
CUI: C1862178
Disease: Cole Carpenter syndrome
Cole Carpenter syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs8324
rs8324 		1.000 0.080 17 81843412 3 prime UTR variant C/A;G snv 0.19
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs876016
rs876016 		0.925 0.080 17 81852587 intron variant A/G snv 0.23
CUI: C1862941
Disease: Amyotrophic Lateral Sclerosis, Sporadic
Amyotrophic Lateral Sclerosis, Sporadic 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2016 2016