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: rs1057518722
rs1057518722 		1.000 0.160 5 33984420 frameshift variant -/A delins
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 0
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: 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: 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: 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: rs1294369944
rs1294369944 		1.000 0.160 5 33947162 splice donor variant C/A 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 0
dbSNP: rs1307137184
rs1307137184 		1.000 0.160 5 33951608 missense variant C/T snv 1.2E-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 0
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: rs1351361600
rs1351361600 		1.000 0.160 5 33944733 missense variant G/A snv 7.0E-06
CUI: C0001916
Disease: Albinism
Albinism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
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: rs1419039731
rs1419039731 		1.000 0.160 5 33944785 missense variant C/T snv
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
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: rs146913714
rs146913714 		1.000 0.040 5 33984373 missense variant T/C snv 2.0E-05 7.0E-06
CUI: C0268306
Disease: Unconjugated hyperbilirubinemia
Unconjugated hyperbilirubinemia 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2016 2016
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: 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: 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: 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: 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: 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
dbSNP: rs16891982
rs16891982 		0.776 0.200 5 33951588 missense variant C/A;G snv 0.65
CUI: C1849452
Disease: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder)
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder) 		0.010 1.000 1 2010 2010
dbSNP: rs16891982
rs16891982 		0.776 0.200 5 33951588 missense variant C/A;G snv 0.65
CUI: C0206710
Disease: Basal Cell Neoplasm
Basal Cell Neoplasm 		Neoplasms 0.700 1.000 1 2019 2019