rs28940268

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;G)	2	carrier for Lamellar ichthyosis, type 2
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

2

Position

214986563

Gene

ABCA12

is a	snp
is	mentioned by
dbSNP	rs28940268
dbSNP (classic)	rs28940268
ClinGen	rs28940268
ebi	rs28940268
HLI	rs28940268
Exac	rs28940268
Gnomad	rs28940268
Varsome	rs28940268
LitVar	rs28940268
Map	rs28940268
PheGenI	rs28940268
Biobank	rs28940268
1000 genomes	rs28940268
hgdp	rs28940268
ensembl	rs28940268
geneview	rs28940268
scholar	rs28940268
google	rs28940268
pharmgkb	rs28940268
gwascentral	rs28940268
openSNP	rs28940268
23andMe	rs28940268
SNPshot	rs28940268
SNPdbe	rs28940268
MSV3d	rs28940268
GWAS Ctlg	rs28940268

Max Magnitude

2

OMIM	607800
Desc	ICHTHYOSIS, LAMELLAR 2
Variant	0001
Related	also

ClinVar
Risk	Rs28940268(A;A)
Alt	Rs28940268(A;A)
Reference	Rs28940268(G;G)
Significance	Pathogenic
Disease	Autosomal recessive congenital ichthyosis 4A
Variation	info
Gene	ABCA12
CLNDBN	Autosomal recessive congenital ichthyosis 4A
Reversed	1
HGVS	NC_000002.11:g.215851287C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002988.3,

This is a recessive SNP for congenital Lamellar ichthyosis, type 2, also called ichthyosis-4A, a significant skin condition.