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: rs1426654
rs1426654 		1.000 15 48134287 missense variant A/G;T snv 0.23
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2014 2014
dbSNP: rs1426654
rs1426654 		1.000 15 48134287 missense variant A/G;T snv 0.23
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation 		0.700 1.000 1 2007 2007
dbSNP: rs2470102
rs2470102 		15 48141297 3 prime UTR variant A/G snv 0.29
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation 		0.700 1.000 1 2017 2017
dbSNP: rs1426654
rs1426654 		1.000 15 48134287 missense variant A/G;T snv 0.23
CUI: C3805375
Disease: ALBINISM, OCULOCUTANEOUS, TYPE VI
ALBINISM, OCULOCUTANEOUS, TYPE VI 		0.700 0
dbSNP: rs1555452572
rs1555452572 		1.000 0.160 15 48134915 missense variant G/A snv
CUI: C3695272
Disease: Oculocutaneous albinism type 6
Oculocutaneous albinism type 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555452574
rs1555452574 		1.000 0.160 15 48134922 stop gained T/A snv
CUI: C3695272
Disease: Oculocutaneous albinism type 6
Oculocutaneous albinism type 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs772398324
rs772398324 		1.000 0.160 15 48136733 frameshift variant T/- del 2.8E-05
CUI: C3695272
Disease: Oculocutaneous albinism type 6
Oculocutaneous albinism type 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs886037642
rs886037642 		1.000 15 48134963 frameshift variant -/TAAT delins 1.4E-05
CUI: C3805375
Disease: ALBINISM, OCULOCUTANEOUS, TYPE VI
ALBINISM, OCULOCUTANEOUS, TYPE VI 		0.700 0
dbSNP: rs886037643
rs886037643 		1.000 0.160 15 48136683 stop gained G/A snv
CUI: C3695272
Disease: Oculocutaneous albinism type 6
Oculocutaneous albinism type 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs886037644
rs886037644 		1.000 0.160 15 48142202 frameshift variant -/T delins
CUI: C3695272
Disease: Oculocutaneous albinism type 6
Oculocutaneous albinism type 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1235133629
rs1235133629 		1.000 0.160 15 48121147 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 2012 2012