rs137853024

Orientation

minus

Stabilized

minus

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

Make rs137853024(A;A)

Make rs137853024(A;C)

Reference

GRCh38 38.1/141

Chromosome

17

Position

8073678

Gene

ALOX12B

is a	snp
is	mentioned by
dbSNP	rs137853024
dbSNP (classic)	rs137853024
ClinGen	rs137853024
ebi	rs137853024
HLI	rs137853024
Exac	rs137853024
Gnomad	rs137853024
Varsome	rs137853024
LitVar	rs137853024
Map	rs137853024
PheGenI	rs137853024
Biobank	rs137853024
1000 genomes	rs137853024
hgdp	rs137853024
ensembl	rs137853024
geneview	rs137853024
scholar	rs137853024
google	rs137853024
pharmgkb	rs137853024
gwascentral	rs137853024
openSNP	rs137853024
23andMe	rs137853024
SNPshot	rs137853024
SNPdbe	rs137853024
MSV3d	rs137853024
GWAS Ctlg	rs137853024

Max Magnitude

0

OMIM	603741
Desc
Variant	0003
Related	also

ClinVar
Risk	rs137853024(A;A)
Alt	rs137853024(A;A)
Reference	Rs137853024(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.7976996G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006457.2,