SLC45A2, solute carrier family 45 member 2, 51151

N. diseases: 75; N. variants: 46
Disease: Albinism, Oculocutaneous ×
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: 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: rs16891982
rs16891982 		0.776 0.200 5 33951588 missense variant C/A;G snv 0.65
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: rs26722
rs26722 		1.000 0.160 5 33963765 missense variant C/T snv 0.12 5.9E-02
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 < 0.001 1 2016 2016
dbSNP: rs3733808
rs3733808 		1.000 0.160 5 33944722 missense variant C/G;T snv 5.5E-04; 4.4E-05
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 2004 2004
dbSNP: rs751978811
rs751978811 		1.000 0.160 5 33984307 missense variant C/T snv 1.2E-05 7.0E-06
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