rs397514526

Orientation

minus

Stabilized

minus

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

Make rs397514526(C;T)

Make rs397514526(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

8086028

Gene

ALOX12B

is a	snp
is	mentioned by
dbSNP	rs397514526
dbSNP (classic)	rs397514526
ClinGen	rs397514526
ebi	rs397514526
HLI	rs397514526
Exac	rs397514526
Gnomad	rs397514526
Varsome	rs397514526
LitVar	rs397514526
Map	rs397514526
PheGenI	rs397514526
Biobank	rs397514526
1000 genomes	rs397514526
hgdp	rs397514526
ensembl	rs397514526
geneview	rs397514526
scholar	rs397514526
google	rs397514526
pharmgkb	rs397514526
gwascentral	rs397514526
openSNP	rs397514526
23andMe	rs397514526
SNPshot	rs397514526
SNPdbe	rs397514526
MSV3d	rs397514526
GWAS Ctlg	rs397514526

Max Magnitude

0

ClinVar
Risk	rs397514526(T;T)
Alt	rs397514526(T;T)
Reference	Rs397514526(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.7989346G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000032736.2,