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rs61816761

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 3.9 Ichthyosis vulgaris (more severe form likely)
(A;G) 3 Ichthyosis, mild form (possible)
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome1
Position152313385
GeneFLG, FLG-AS1
is asnp
is mentioned by
dbSNPrs61816761
ebirs61816761
HLIrs61816761
Exacrs61816761
Varsomers61816761
Maprs61816761
PheGenIrs61816761
hapmaprs61816761
1000 genomesrs61816761
hgdprs61816761
ensemblrs61816761
gopubmedrs61816761
geneviewrs61816761
scholarrs61816761
googlers61816761
pharmgkbrs61816761
gwascentralrs61816761
openSNPrs61816761
23andMers61816761
23andMe allrs61816761
SNP Nexus

SNPshotrs61816761
SNPdbers61816761
MSV3drs61816761
GWAS Ctlgrs61816761
GMAF0.00551
Max Magnitude3.9

rs61816761, also known as c.1501C>T, p.Arg501Ter and R501X, 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 rs61816761(A) 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.

OMIM135940
Desc
Variant0001
Relatedalso
ClinVar
Risk rs61816761(A,T;A,T)
Alt rs61816761(A,T;A,T)
Reference rs61816761(G;G)
Significance Other
Disease Ichthyosis vulgaris Dermatitis
Variation info
Gene FLG FLG-AS1
CLNDBN Ichthyosis vulgaris Dermatitis, atopic, 2, susceptibility to
Reversed 0
HGVS NC_000001.10:g.152285861G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017712.30, RCV000017713.3,



[PMID 22069270OA-icon.png] rs61816761 is located in the FLG locus; one of the major loci associated with atopic dermatitis and asthma predisposition. In this study of 7688 type 1 diabetes patients and 9354 controls, the association between rs61816761 and type 1 diabetes was examined. The odds ratios (95% confidence intervals) were 1.01 (0.88-1.17), 1.02 (0.88-1.18), and 0.88 (0.20-3.81) for the T, T;C, and T;T minor alleles/genotypes, respectively, as compared to C;C (P=0.082). In other words, there is no association between Rs61816761 and type 1 diabetes.