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: rs768290318
rs768290318 		1.000 0.120 17 19671781 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0037231
Disease: Sjogren-Larsson Syndrome
Sjogren-Larsson Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 5 1996 2000
dbSNP: rs72547556
rs72547556 		1.000 0.120 17 19651584 missense variant T/A snv 4.0E-06 1.4E-05
CUI: C0037231
Disease: Sjogren-Larsson Syndrome
Sjogren-Larsson Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs72547575
rs72547575 		1.000 0.120 17 19664997 missense variant A/G snv 1.6E-05 1.4E-05
CUI: C0037231
Disease: Sjogren-Larsson Syndrome
Sjogren-Larsson Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 5 1996 2000
dbSNP: rs72547568
rs72547568 		1.000 0.120 17 19657797 missense variant G/A snv 4.0E-06 2.1E-05
CUI: C0037231
Disease: Sjogren-Larsson Syndrome
Sjogren-Larsson Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 12 1996 2018
dbSNP: rs72547568
rs72547568 		1.000 0.120 17 19657797 missense variant G/A snv 4.0E-06 2.1E-05
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs72547573
rs72547573 		0.925 0.200 17 19663486 missense variant C/T snv 2.1E-05
CUI: C0037231
Disease: Sjogren-Larsson Syndrome
Sjogren-Larsson Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.710 1.000 6 1996 2007
dbSNP: rs72547573
rs72547573 		0.925 0.200 17 19663486 missense variant C/T snv 2.1E-05
CUI: C0275814
Disease: Streptococcal lymphadenitis of swine
Streptococcal lymphadenitis of swine 		Infections; Hemic and Lymphatic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs72547562
rs72547562 		1.000 0.120 17 19656445 missense variant C/T snv 2.4E-05 2.8E-05
CUI: C0037231
Disease: Sjogren-Larsson Syndrome
Sjogren-Larsson Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 7 1996 2009