ALOXE3, arachidonate lipoxygenase 3, 59344

N. diseases: 61; N. variants: 15
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 ×
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: rs147149459
rs147149459 		1.000 17 8103390 missense variant G/A snv 1.0E-03 1.0E-03
CUI: C3539888
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 		0.800 1.000 6 2002 2016
dbSNP: rs121434232
rs121434232 		1.000 17 8109238 missense variant C/A;T snv
CUI: C3539888
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 		0.800 1.000 5 2002 2010
dbSNP: rs121434234
rs121434234 		1.000 17 8110211 missense variant G/T snv
CUI: C3539888
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 		0.800 1.000 5 2002 2010
dbSNP: rs1355284797
rs1355284797 		1.000 17 8110117 missense variant A/G snv 4.1E-06
CUI: C3539888
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 		0.800 1.000 5 2002 2010
dbSNP: rs786205120
rs786205120 		1.000 17 8111474 missense variant C/A;T snv
CUI: C3539888
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 		0.800 0
dbSNP: rs121434235
rs121434235 		1.000 17 8112168 missense variant A/G;T snv 8.0E-06; 5.0E-03
CUI: C3539888
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 		0.700 1.000 5 2002 2010
dbSNP: rs121434233
rs121434233 		1.000 17 8112177 stop gained G/A snv 1.5E-04 1.3E-04
CUI: C3539888
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 		0.700 0
dbSNP: rs370031870
rs370031870 		0.925 0.080 17 8115623 stop gained G/A;T snv 2.0E-05; 4.0E-06
CUI: C3539888
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 		0.700 0
dbSNP: rs745480657
rs745480657 		1.000 17 8115607 missense variant C/T snv 3.2E-05 1.4E-05
CUI: C3539888
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 		0.700 0