rs267606622

Orientation

minus

Stabilized

minus

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

Make rs267606622(A;A)

Make rs267606622(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

214990791

Gene

ABCA12

is a	snp
is	mentioned by
dbSNP	rs267606622
dbSNP (classic)	rs267606622
ClinGen	rs267606622
ebi	rs267606622
HLI	rs267606622
Exac	rs267606622
Gnomad	rs267606622
Varsome	rs267606622
LitVar	rs267606622
Map	rs267606622
PheGenI	rs267606622
Biobank	rs267606622
1000 genomes	rs267606622
hgdp	rs267606622
ensembl	rs267606622
geneview	rs267606622
scholar	rs267606622
google	rs267606622
pharmgkb	rs267606622
gwascentral	rs267606622
openSNP	rs267606622
23andMe	rs267606622
SNPshot	rs267606622
SNPdbe	rs267606622
MSV3d	rs267606622
GWAS Ctlg	rs267606622

Max Magnitude

0

ClinVar
Risk	rs267606622(A;A)
Alt	rs267606622(A;A)
Reference	Rs267606622(G;G)
Significance	Pathogenic
Disease	Autosomal recessive congenital ichthyosis 4B
Variation	info
Gene	ABCA12
CLNDBN	Autosomal recessive congenital ichthyosis 4B
Reversed	1
HGVS	NC_000002.11:g.215855515C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002997.3,