rs28940270

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

214982225

Gene

ABCA12

is a	snp
is	mentioned by
dbSNP	rs28940270
dbSNP (classic)	rs28940270
ClinGen	rs28940270
ebi	rs28940270
HLI	rs28940270
Exac	rs28940270
Gnomad	rs28940270
Varsome	rs28940270
LitVar	rs28940270
Map	rs28940270
PheGenI	rs28940270
Biobank	rs28940270
1000 genomes	rs28940270
hgdp	rs28940270
ensembl	rs28940270
geneview	rs28940270
scholar	rs28940270
google	rs28940270
pharmgkb	rs28940270
gwascentral	rs28940270
openSNP	rs28940270
23andMe	rs28940270
SNPshot	rs28940270
SNPdbe	rs28940270
MSV3d	rs28940270
GWAS Ctlg	rs28940270

Max Magnitude

2

OMIM	607800
Desc	ICHTHYOSIS, LAMELLAR 2
Variant	0004
Related	also

ClinVar
Risk	Rs28940270(A;A)
Alt	Rs28940270(A;A)
Reference	Rs28940270(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.215846949C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002991.3,

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