rs397514527

Orientation

minus

Stabilized

minus

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

Make rs397514527(C;T)

Make rs397514527(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

8076725

Gene

ALOX12B

is a	snp
is	mentioned by
dbSNP	rs397514527
dbSNP (classic)	rs397514527
ClinGen	rs397514527
ebi	rs397514527
HLI	rs397514527
Exac	rs397514527
Gnomad	rs397514527
Varsome	rs397514527
LitVar	rs397514527
Map	rs397514527
PheGenI	rs397514527
Biobank	rs397514527
1000 genomes	rs397514527
hgdp	rs397514527
ensembl	rs397514527
geneview	rs397514527
scholar	rs397514527
google	rs397514527
pharmgkb	rs397514527
gwascentral	rs397514527
openSNP	rs397514527
23andMe	rs397514527
SNPshot	rs397514527
SNPdbe	rs397514527
MSV3d	rs397514527
GWAS Ctlg	rs397514527

Max Magnitude

0

ClinVar
Risk	rs397514527(T;T)
Alt	rs397514527(T;T)
Reference	Rs397514527(C;C)
Significance	Pathogenic
Disease	Autosomal recessive congenital ichthyosis 2 Congenital ichthyosiform erythroderma
Variation	info
Gene	ALOX12B
CLNDBN	Autosomal recessive congenital ichthyosis 2 Congenital ichthyosiform erythroderma
Reversed	1
HGVS	NC_000017.10:g.7980043G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000032737.2, RCV000312511.1,