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: rs1170446813
rs1170446813 		1.000 6 36301901 frameshift variant C/- delins
CUI: C3554355
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10 		0.700 1.000 1 2017 2017
dbSNP: rs1182312612
rs1182312612 		0.925 0.080 6 36270559 missense variant G/A;C snv 2.6E-05; 6.5E-06
CUI: C0079583
Disease: Ichthyosiform Erythroderma, Congenital
Ichthyosiform Erythroderma, Congenital 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1554138062
rs1554138062 		0.925 0.080 6 36294331 missense variant T/C snv
CUI: C0079583
Disease: Ichthyosiform Erythroderma, Congenital
Ichthyosiform Erythroderma, Congenital 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs369445146
rs369445146 		0.925 0.080 6 36291449 missense variant C/A snv 4.0E-06 1.4E-05
CUI: C0079583
Disease: Ichthyosiform Erythroderma, Congenital
Ichthyosiform Erythroderma, Congenital 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs369445146
rs369445146 		0.925 0.080 6 36291449 missense variant C/A snv 4.0E-06 1.4E-05
CUI: C3554355
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10 		0.700 1.000 1 2017 2017
dbSNP: rs371307766
rs371307766 		1.000 6 36291464 missense variant C/G;T snv 1.6E-05; 1.6E-05
CUI: C3554355
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10 		0.700 1.000 1 2017 2017
dbSNP: rs4713940
rs4713940 		6 36249383 intron variant G/A snv 0.74
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs781053760
rs781053760 		0.925 0.080 6 36291532 missense variant T/C snv 8.2E-06 2.6E-05
CUI: C3554355
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10 		0.700 1.000 1 2017 2017
dbSNP: rs781053760
rs781053760 		0.925 0.080 6 36291532 missense variant T/C snv 8.2E-06 2.6E-05
CUI: C0079583
Disease: Ichthyosiform Erythroderma, Congenital
Ichthyosiform Erythroderma, Congenital 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs922934422
rs922934422 		1.000 6 36291380 missense variant C/T snv
CUI: C3554355
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10 		0.700 1.000 1 2017 2017
dbSNP: rs1182312612
rs1182312612 		0.925 0.080 6 36270559 missense variant G/A;C snv 2.6E-05; 6.5E-06
CUI: C3554355
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10 		0.700 0
dbSNP: rs1373230987
rs1373230987 		1.000 6 36270515 missense variant C/G;T snv 6.5E-06 7.0E-06
CUI: C3554355
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10 		0.700 0
dbSNP: rs1554138062
rs1554138062 		0.925 0.080 6 36294331 missense variant T/C snv
CUI: C3554355
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10 		0.700 0
dbSNP: rs1561853847
rs1561853847 		1.000 6 36270635 missense variant C/T snv
CUI: C3554355
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10 		0.700 0
dbSNP: rs1561864453
rs1561864453 		1.000 6 36291505 stop gained G/T snv
CUI: C3554355
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10 		0.700 0
dbSNP: rs200806519
rs200806519 		0.925 0.080 6 36291501 missense variant C/A;T snv 2.4E-05 4.1E-05
CUI: C3554355
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10 		0.700 0
dbSNP: rs200806519
rs200806519 		0.925 0.080 6 36291501 missense variant C/A;T snv 2.4E-05 4.1E-05
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs533584507
rs533584507 		1.000 6 36270608 missense variant C/A;T snv 6.5E-06; 1.3E-05
CUI: C3554355
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10 		0.700 0
dbSNP: rs746575171
rs746575171 		1.000 6 36295386 missense variant G/A;C snv 1.6E-05 1.4E-05
CUI: C3554355
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10 		0.700 0
dbSNP: rs766215523
rs766215523 		1.000 6 36294299 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C3554355
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10 		0.700 0
dbSNP: rs12199580
rs12199580 		1.000 0.080 6 36302353 missense variant C/A;T snv 0.40
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009