rs28940269

Orientation

minus

Stabilized

minus

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

Make rs28940269(A;G)

Make rs28940269(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

214986566

Gene

ABCA12

is a	snp
is	mentioned by
dbSNP	rs28940269
dbSNP (classic)	rs28940269
ClinGen	rs28940269
ebi	rs28940269
HLI	rs28940269
Exac	rs28940269
Gnomad	rs28940269
Varsome	rs28940269
LitVar	rs28940269
Map	rs28940269
PheGenI	rs28940269
Biobank	rs28940269
1000 genomes	rs28940269
hgdp	rs28940269
ensembl	rs28940269
geneview	rs28940269
scholar	rs28940269
google	rs28940269
pharmgkb	rs28940269
gwascentral	rs28940269
openSNP	rs28940269
23andMe	rs28940269
SNPshot	rs28940269
SNPdbe	rs28940269
MSV3d	rs28940269
GWAS Ctlg	rs28940269

Max Magnitude

0

OMIM	607800
Desc	ICHTHYOSIS, LAMELLAR 2
Variant	0002
Related	also

ClinVar
Risk	rs28940269(G;G)
Alt	rs28940269(G;G)
Reference	Rs28940269(A;A)
Significance	Pathogenic
Disease	Autosomal recessive congenital ichthyosis 4A not provided
Variation	info
Gene	ABCA12
CLNDBN	Autosomal recessive congenital ichthyosis 4A not provided
Reversed	1
HGVS	NC_000002.11:g.215851290T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002989.3, RCV000255645.1,

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