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rs113993961

From SNPedia

Werner Syndrome
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 6 Werner syndrome; homozygote for transversion mutation
(C;G) 2 carrier for Werner syndrome
(G;G) 0 normal
ReferenceGRCh38 38.1/141
Chromosome8
Position31141680
GeneWRN
is asnp
is mentioned by
dbSNPrs113993961
ebirs113993961
HLIrs113993961
Exacrs113993961
Varsomers113993961
Maprs113993961
PheGenIrs113993961
hapmaprs113993961
1000 genomesrs113993961
hgdprs113993961
ensemblrs113993961
gopubmedrs113993961
geneviewrs113993961
scholarrs113993961
googlers113993961
pharmgkbrs113993961
gwascentralrs113993961
openSNPrs113993961
23andMers113993961
23andMe allrs113993961
SNP Nexus

SNPshotrs113993961
SNPdbers113993961
MSV3drs113993961
GWAS Ctlgrs113993961
GMAF0.0004591
Max Magnitude6
rs113993961 is a rare transversion in the WRN gene that results in a frameshift of codons 1078 to 1092 due to a change in a splice donor sequence, leading to the recessive disorder known as Werner Syndrome. See OMIM 604611.0004.
OMIM604611
Desc
Variant0004
Relatedalso
ClinVar
Risk rs113993961(C;C)
Alt rs113993961(C;C)
Reference rs113993961(G;G)
Significance Pathogenic
Disease Werner syndrome not provided
Variation info
Gene WRN
CLNDBN Werner syndrome not provided
Reversed 0
HGVS NC_000008.10:g.30999196G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000005780.3, RCV000058932.1,


[PMID 10347997] Prevalence of Werner's syndrome heterozygotes in Japan.


[PMID 16673358OA-icon.png] The spectrum of WRN mutations in Werner syndrome patients.