Disease: Sjogren-Larsson Syndrome ×
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: rs72547571
rs72547571 		1.000 0.120 17 19663335 missense variant C/G;T snv 1.1E-04
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 0.810 1.000 6 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: 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
dbSNP: rs72547569
rs72547569 		1.000 0.120 17 19657862 missense variant G/C snv 4.0E-06; 8.0E-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 0.800 1.000 5 1996 2000
dbSNP: rs72547566
rs72547566 		1.000 0.120 17 19657746 missense variant C/T snv 1.6E-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 0.720 1.000 7 1996 2019
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: rs67939114
rs67939114 		1.000 0.120 17 19671852 missense variant A/G snv 4.0E-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: rs72547560
rs72547560 		1.000 0.120 17 19651755 missense variant C/T snv
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: rs72547563
rs72547563 		1.000 0.120 17 19656448 missense variant G/A;C snv 1.2E-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: rs72547564
rs72547564 		1.000 0.120 17 19656535 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: rs72547565
rs72547565 		1.000 0.120 17 19656572 missense variant C/G snv 4.1E-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: rs72547567
rs72547567 		1.000 0.120 17 19657774 missense variant G/A snv
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: rs72547570
rs72547570 		1.000 0.120 17 19661163 missense variant T/A snv
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: rs72547572
rs72547572 		1.000 0.120 17 19663376 start lost G/A;C snv 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: 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: rs72547576
rs72547576 		1.000 0.120 17 19671769 missense variant T/C snv
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: 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: rs778115541
rs778115541 		1.000 0.120 17 19671747 missense variant G/A snv 8.0E-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: rs387906257
rs387906257 		1.000 0.120 17 19671818 frameshift variant -/ACAAA delins
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 2 1997 1999
dbSNP: rs72547561
rs72547561 		1.000 0.120 17 19656423 stop gained C/G;T snv 6.0E-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 2 2004 2017
dbSNP: rs1567607328
rs1567607328 		1.000 0.120 17 19671822 stop gained A/T snv
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: rs387906256
rs387906256 		1.000 0.120 17 19671805 frameshift variant GA/- delins
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: 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: rs72547558
rs72547558 		1.000 0.120 17 19651710 missense variant T/G snv
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: rs72547559
rs72547559 		1.000 0.120 17 19651734 missense variant C/T snv
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