PHRF1, PHD and ring finger domains 1, 57661

N. diseases: 17; N. variants: 5
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: rs4963128
rs4963128 		0.882 0.120 11 589564 intron variant T/C snv 0.64
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.830 1.000 5 2008 2012
dbSNP: rs4963128
rs4963128 		0.882 0.120 11 589564 intron variant T/C snv 0.64
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs7936397
rs7936397 		1.000 0.040 11 577534 intron variant G/A snv 0.30
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs936469
rs936469 		1.000 0.040 11 606749 non coding transcript exon variant G/A snv 0.24
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.700 1.000 1 2013 2013
dbSNP: rs702966
rs702966 		0.925 0.080 11 611919 3 prime UTR variant C/G snv 0.33
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.020 1.000 2 2010 2011
dbSNP: rs1221395132
rs1221395132 		11 612721 missense variant C/T snv 7.0E-06
CUI: C0024115
Disease: Lung diseases
Lung diseases 		Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs4963128
rs4963128 		0.882 0.120 11 589564 intron variant T/C snv 0.64
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs702966
rs702966 		0.925 0.080 11 611919 3 prime UTR variant C/G snv 0.33
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012