rs199766569

Orientation

plus

Stabilized

plus

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

Make rs199766569(C;C)

Make rs199766569(C;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

8075687

Gene

ALOX12B

is a	snp
is	mentioned by
dbSNP	rs199766569
dbSNP (classic)	rs199766569
ClinGen	rs199766569
ebi	rs199766569
HLI	rs199766569
Exac	rs199766569
Gnomad	rs199766569
Varsome	rs199766569
LitVar	rs199766569
Map	rs199766569
PheGenI	rs199766569
Biobank	rs199766569
1000 genomes	rs199766569
hgdp	rs199766569
ensembl	rs199766569
geneview	rs199766569
scholar	rs199766569
google	rs199766569
pharmgkb	rs199766569
gwascentral	rs199766569
openSNP	rs199766569
23andMe	rs199766569
SNPshot	rs199766569
SNPdbe	rs199766569
MSV3d	rs199766569
GWAS Ctlg	rs199766569

Max Magnitude

0

ClinVar
Risk	rs199766569(C;C)
Alt	rs199766569(C;C)
Reference	Rs199766569(T;T)
Significance	Pathogenic
Disease	Autosomal recessive congenital ichthyosis 2 Congenital ichthyosiform erythroderma not provided Ichthyosis
Variation	info
Gene	ALOX12B
CLNDBN	Autosomal recessive congenital ichthyosis 2 Congenital ichthyosiform erythroderma not provided Ichthyosis
Reversed	0
HGVS	NC_000017.10:g.7979005T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000032744.4, RCV000341391.1, RCV000413764.1, RCV000414880.1,