rs558269137

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	3.9	Ichthyosis vulgaris (more severe form likely)
(-;ACTG)	3	Ichthyosis, mild form (possible)
(ACTG;ACTG)	0	common/normal

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

152312601

Gene	FLG, FLG-AS1

is a	snp
is	mentioned by
dbSNP	rs558269137
dbSNP (classic)	rs558269137
ClinGen	rs558269137
ebi	rs558269137
HLI	rs558269137
Exac	rs558269137
Gnomad	rs558269137
Varsome	rs558269137
LitVar	rs558269137
Map	rs558269137
PheGenI	rs558269137
Biobank	rs558269137
1000 genomes	rs558269137
hgdp	rs558269137
ensembl	rs558269137
geneview	rs558269137
scholar	rs558269137
google	rs558269137
pharmgkb	rs558269137
gwascentral	rs558269137
openSNP	rs558269137
23andMe	rs558269137
SNPshot	rs558269137
SNPdbe	rs558269137
MSV3d	rs558269137
GWAS Ctlg	rs558269137

Max Magnitude

3.9

rs558269137, also known as c.2284del4, c.2284delAGCT and c.2282_2285delCAGT, is a mutation in the FLG gene on chromosome 1.

Considered a condition inherited in a semidominant manner, ichthyosis vulgaris is associated in mild and more severe forms with inheriting either one or two copies, respectively, of the minor allele for this mutation. This mutation is perhaps the best known of a relatively large number of loss-of-function (LoF) mutations in the FLG gene that lead to increased risk for ichthyosis vulgaris, atopic dermatitis and eczema.

ClinVar
Risk	Rs558269137(-;-)
Alt	Rs558269137(-;-)
Reference	Rs558269137(ACTG;ACTG)
Significance	Other
Disease	Ichthyosis vulgaris Dermatitis not specified not provided
Variation	info
Gene	FLG FLG-AS1
CLNDBN	Ichthyosis vulgaris Dermatitis, atopic, 2, susceptibility to Dermatitis, atopic, 2 not specified not provided
Reversed	0
HGVS	NC_000001.10:g.152285077_152285080delACTG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000017714.28, RCV000017715.3, RCV000191085.1, RCV000238626.1, RCV000256057.2,