rs397514531

Orientation

minus

Stabilized

minus

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

Make rs397514531(C;T)

Make rs397514531(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

8077058

Gene

ALOX12B

is a	snp
is	mentioned by
dbSNP	rs397514531
dbSNP (classic)	rs397514531
ClinGen	rs397514531
ebi	rs397514531
HLI	rs397514531
Exac	rs397514531
Gnomad	rs397514531
Varsome	rs397514531
LitVar	rs397514531
Map	rs397514531
PheGenI	rs397514531
Biobank	rs397514531
1000 genomes	rs397514531
hgdp	rs397514531
ensembl	rs397514531
geneview	rs397514531
scholar	rs397514531
google	rs397514531
pharmgkb	rs397514531
gwascentral	rs397514531
openSNP	rs397514531
23andMe	rs397514531
SNPshot	rs397514531
SNPdbe	rs397514531
MSV3d	rs397514531
GWAS Ctlg	rs397514531

Max Magnitude

0

ClinVar
Risk	rs397514531(T;T)
Alt	rs397514531(T;T)
Reference	Rs397514531(C;C)
Significance	Pathogenic
Disease	Autosomal recessive congenital ichthyosis 2
Variation	info
Gene	ALOX12B
CLNDBN	Autosomal recessive congenital ichthyosis 2
Reversed	1
HGVS	NC_000017.10:g.7980376G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000032741.3,