rs121434235

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs121434235(A;A)

Make rs121434235(A;T)

Reference

GRCh38 38.1/142

Chromosome

17

Position

8112168

Gene

ALOXE3

is a	snp
is	mentioned by
dbSNP	rs121434235
dbSNP (classic)	rs121434235
ClinGen	rs121434235
ebi	rs121434235
HLI	rs121434235
Exac	rs121434235
Gnomad	rs121434235
Varsome	rs121434235
LitVar	rs121434235
Map	rs121434235
PheGenI	rs121434235
Biobank	rs121434235
1000 genomes	rs121434235
hgdp	rs121434235
ensembl	rs121434235
geneview	rs121434235
scholar	rs121434235
google	rs121434235
pharmgkb	rs121434235
gwascentral	rs121434235
openSNP	rs121434235
23andMe	rs121434235
SNPshot	rs121434235
SNPdbe	rs121434235
MSV3d	rs121434235
GWAS Ctlg	rs121434235

GMAF

0.001377

Max Magnitude

0

OMIM	607206
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121434235(A;A) rs121434235(C;C)
Alt	rs121434235(A;A) rs121434235(C;C)
Reference	Rs121434235(T;T)
Significance	Pathogenic
Disease	Autosomal recessive congenital ichthyosis 3 Congenital ichthyosiform erythroderma
Variation	info
Gene	ALOXE3
CLNDBN	Autosomal recessive congenital ichthyosis 3 Congenital ichthyosiform erythroderma
Reversed	1
HGVS	NC_000017.10:g.8015486A>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003579.3, RCV000278697.1,