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rs558269137

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 3.9 Ichthyosis vulgaris (more severe form likely)
(-;ACTG) 3 Ichthyosis, mild form (possible)
(ACTG;ACTG) 0 common/normal
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position152312601
GeneFLG, FLG-AS1
is asnp
is mentioned by
dbSNPrs558269137
dbSNP (old)rs558269137
ClinGenrs558269137
ebirs558269137
HLIrs558269137
Exacrs558269137
Gnomadrs558269137
Varsomers558269137
Maprs558269137
PheGenIrs558269137
Biobankrs558269137
1000 genomesrs558269137
hgdprs558269137
ensemblrs558269137
gopubmedrs558269137
geneviewrs558269137
scholarrs558269137
googlers558269137
pharmgkbrs558269137
gwascentralrs558269137
openSNPrs558269137
23andMers558269137
23andMe allrs558269137
SNP Nexus

SNPshotrs558269137
SNPdbers558269137
MSV3drs558269137
GWAS Ctlgrs558269137
Max Magnitude3.9

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,