SLC45A2, solute carrier family 45 member 2, 51151

N. diseases: 75; N. variants: 46
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: rs121912620
rs121912620 		1.000 0.160 5 33944784 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C1847836
Disease: Oculocutaneous Albinism, Type IV
Oculocutaneous Albinism, Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.800 1.000 7 2001 2013
dbSNP: rs121912621
rs121912621 		1.000 0.160 5 33982329 missense variant C/T snv 4.0E-06
CUI: C1847836
Disease: Oculocutaneous Albinism, Type IV
Oculocutaneous Albinism, Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.800 1.000 7 2001 2013
dbSNP: rs16891982
rs16891982 		0.776 0.200 5 33951588 missense variant C/A;G snv 0.65
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation 		0.800 1.000 3 2007 2018
dbSNP: rs16891982
rs16891982 		0.776 0.200 5 33951588 missense variant C/A;G snv 0.65
CUI: C0018498
Disease: Hair Color
Hair Color 		0.800 1.000 3 2010 2018
dbSNP: rs16891982
rs16891982 		0.776 0.200 5 33951588 missense variant C/A;G snv 0.65
CUI: C0015396
Disease: Eye Color
Eye Color 		0.800 1.000 2 2010 2018
dbSNP: rs28777
rs28777 		5 33958854 intron variant C/A snv 0.70
CUI: C0018498
Disease: Hair Color
Hair Color 		0.800 1.000 1 2008 2008
dbSNP: rs35390
rs35390 		1.000 0.040 5 33955221 intron variant C/A snv 0.81
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.800 1.000 1 2011 2011
dbSNP: rs16891982
rs16891982 		0.776 0.200 5 33951588 missense variant C/A;G snv 0.65
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.750 0.833 6 2008 2017
dbSNP: rs760780597
rs760780597 		1.000 0.160 5 33982320 missense variant C/A;G snv 4.0E-06
CUI: C1847836
Disease: Oculocutaneous Albinism, Type IV
Oculocutaneous Albinism, Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.710 1.000 7 2001 2013
dbSNP: rs16891982
rs16891982 		0.776 0.200 5 33951588 missense variant C/A;G snv 0.65
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		Neoplasms 0.710 1.000 2 2009 2016
dbSNP: rs121912619
rs121912619 		1.000 0.160 5 33951628 missense variant A/G snv 4.0E-05 6.3E-05
CUI: C1847836
Disease: Oculocutaneous Albinism, Type IV
Oculocutaneous Albinism, Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.700 1.000 7 2001 2013
dbSNP: rs1290584600
rs1290584600 		1.000 0.160 5 33984412 missense variant G/C snv 4.0E-06
CUI: C1847836
Disease: Oculocutaneous Albinism, Type IV
Oculocutaneous Albinism, Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.700 1.000 7 2001 2013
dbSNP: rs1352999116
rs1352999116 		1.000 0.160 5 33944812 missense variant C/T snv 8.0E-06 2.1E-05
CUI: C1847836
Disease: Oculocutaneous Albinism, Type IV
Oculocutaneous Albinism, Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.700 1.000 7 2001 2013
dbSNP: rs144503724
rs144503724 		1.000 0.160 5 33947277 missense variant G/A;T snv 3.5E-04; 4.0E-06
CUI: C1847836
Disease: Oculocutaneous Albinism, Type IV
Oculocutaneous Albinism, Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.700 1.000 7 2001 2013
dbSNP: rs146802593
rs146802593 		1.000 0.160 5 33963973 missense variant C/G snv 2.3E-04 1.8E-04
CUI: C1847836
Disease: Oculocutaneous Albinism, Type IV
Oculocutaneous Albinism, Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.700 1.000 7 2001 2013
dbSNP: rs146930801
rs146930801 		1.000 0.160 5 33951665 missense variant C/T snv 7.2E-05 4.9E-05
CUI: C1847836
Disease: Oculocutaneous Albinism, Type IV
Oculocutaneous Albinism, Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.700 1.000 7 2001 2013
dbSNP: rs372465070
rs372465070 		1.000 0.160 5 33951668 missense variant G/A snv 1.6E-05 2.8E-05
CUI: C1847836
Disease: Oculocutaneous Albinism, Type IV
Oculocutaneous Albinism, Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.700 1.000 7 2001 2013
dbSNP: rs553073635
rs553073635 		1.000 0.160 5 33954489 missense variant T/A snv 4.5E-04 8.4E-05
CUI: C1847836
Disease: Oculocutaneous Albinism, Type IV
Oculocutaneous Albinism, Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.700 1.000 7 2001 2013
dbSNP: rs762813061
rs762813061 		1.000 0.160 5 33984256 missense variant C/T snv 4.0E-06
CUI: C1847836
Disease: Oculocutaneous Albinism, Type IV
Oculocutaneous Albinism, Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.700 1.000 7 2001 2013
dbSNP: rs16891982
rs16891982 		0.776 0.200 5 33951588 missense variant C/A;G snv 0.65
CUI: C0406208
Disease: Suntan
Suntan 		0.700 1.000 2 2018 2018
dbSNP: rs183671
rs183671 		1.000 0.040 5 33964105 intron variant T/A;G snv
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation 		0.700 1.000 2 2015 2018
dbSNP: rs775387808
rs775387808 		1.000 0.160 5 33984320 frameshift variant G/- del 1.0E-04
CUI: C1847836
Disease: Oculocutaneous Albinism, Type IV
Oculocutaneous Albinism, Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.700 1.000 2 2005 2014
dbSNP: rs116887602
rs116887602 		5 33963745 stop gained G/A;C;T snv 8.7E-04; 5.6E-05; 4.0E-06
CUI: C0018498
Disease: Hair Color
Hair Color 		0.700 1.000 1 2018 2018
dbSNP: rs13289
rs13289 		5 33986304 3 prime UTR variant C/G;T snv
CUI: C0018498
Disease: Hair Color
Hair Color 		0.700 1.000 1 2018 2018
dbSNP: rs16891982
rs16891982 		0.776 0.200 5 33951588 missense variant C/A;G snv 0.65
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		Neoplasms 0.700 1.000 1 2019 2019