Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14 ×
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: rs1114167424
rs1114167424 		0.925 0.080 19 48591631 missense variant C/G;T snv 8.0E-06
CUI: C4539754
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14 		0.800 1.000 1 2017 2017
dbSNP: rs762765702
rs762765702 		0.925 0.080 19 48596914 missense variant G/A snv 7.0E-06
CUI: C4539754
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14 		0.800 1.000 1 2017 2017
dbSNP: rs1114167425
rs1114167425 		0.925 0.080 19 48587377 frameshift variant -/A delins
CUI: C4539754
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14 		0.700 0
dbSNP: rs1114167426
rs1114167426 		0.925 0.080 19 48552325 splice donor variant T/A snv
CUI: C4539754
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14 		0.700 0
dbSNP: rs1303127476
rs1303127476 		1.000 19 48587312 missense variant C/T snv
CUI: C4539754
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14 		0.700 0
dbSNP: rs140526640
rs140526640 		1.000 19 48587246 missense variant G/A snv 1.6E-05 2.1E-05
CUI: C4539754
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14 		0.700 0