rs397514532

Orientation

minus

Stabilized

minus

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

Make rs397514532(C;T)

Make rs397514532(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

8075607

Gene

ALOX12B

is a	snp
is	mentioned by
dbSNP	rs397514532
dbSNP (classic)	rs397514532
ClinGen	rs397514532
ebi	rs397514532
HLI	rs397514532
Exac	rs397514532
Gnomad	rs397514532
Varsome	rs397514532
LitVar	rs397514532
Map	rs397514532
PheGenI	rs397514532
Biobank	rs397514532
1000 genomes	rs397514532
hgdp	rs397514532
ensembl	rs397514532
geneview	rs397514532
scholar	rs397514532
google	rs397514532
pharmgkb	rs397514532
gwascentral	rs397514532
openSNP	rs397514532
23andMe	rs397514532
SNPshot	rs397514532
SNPdbe	rs397514532
MSV3d	rs397514532
GWAS Ctlg	rs397514532

Max Magnitude

0

ClinVar
Risk	rs397514532(T;T)
Alt	rs397514532(T;T)
Reference	Rs397514532(C;C)
Significance	Pathogenic
Disease	Autosomal recessive congenital ichthyosis 2 not provided
Variation	info
Gene	ALOX12B
CLNDBN	Autosomal recessive congenital ichthyosis 2 not provided
Reversed	1
HGVS	NC_000017.10:g.7978925G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000032743.3, RCV000414417.1,