ST14, suppression of tumorigenicity 14, 6768

N. diseases: 170; N. variants: 9
Disease: Ichthyosis with hypotrichosis, autosomal recessive ×
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: rs137852931
rs137852931 		1.000 0.080 11 130209734 missense variant G/A;C snv
CUI: C1835851
Disease: Ichthyosis with hypotrichosis, autosomal recessive
Ichthyosis with hypotrichosis, autosomal recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.820 1.000 4 2007 2009
dbSNP: rs137852932
rs137852932 		1.000 0.080 11 130159982 start lost G/A snv
CUI: C1835851
Disease: Ichthyosis with hypotrichosis, autosomal recessive
Ichthyosis with hypotrichosis, autosomal recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs587777262
rs587777262 		1.000 0.080 11 130208685 splice donor variant G/A snv
CUI: C1835851
Disease: Ichthyosis with hypotrichosis, autosomal recessive
Ichthyosis with hypotrichosis, autosomal recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs587777263
rs587777263 		1.000 0.080 11 130208449 frameshift variant G/- del
CUI: C1835851
Disease: Ichthyosis with hypotrichosis, autosomal recessive
Ichthyosis with hypotrichosis, autosomal recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0