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rs17847577

From SNPedia
(Redirected from OMIM604611.0006)

Werner's Syndrome
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 normal
(C;T) 5 Unaffected carrier for Werner's Syndrome
(T;T) 7.5 Werner's Syndrome
ReferenceGRCh38 38.1/141
Chromosome8
Position31081132
GeneWRN
is asnp
is mentioned by
dbSNPrs17847577
ebirs17847577
HLIrs17847577
Exacrs17847577
Varsomers17847577
Maprs17847577
PheGenIrs17847577
hapmaprs17847577
1000 genomesrs17847577
hgdprs17847577
ensemblrs17847577
gopubmedrs17847577
geneviewrs17847577
scholarrs17847577
googlers17847577
pharmgkbrs17847577
gwascentralrs17847577
openSNPrs17847577
23andMers17847577
23andMe allrs17847577
SNP Nexus

SNPshotrs17847577
SNPdbers17847577
MSV3drs17847577
GWAS Ctlgrs17847577
Max Magnitude7.5

rs17847577, also known as R368X, Arg368Ter, Arg369Ter, c.1105C>T or 1336C>T) represents the most common WRN mutation seen in Caucasians as well as all other non-Japanese populations, perhaps representing ~20% of all Werner Syndrome cases.

OMIM604611
Desc
Variant0006
Relatedalso


ClinVar
Risk rs17847577(T;T)
Alt rs17847577(T;T)
Reference rs17847577(C;C)
Significance Pathogenic
Disease Werner syndrome
Variation info
Gene WRN
CLNDBN Werner syndrome
Reversed 0
HGVS NC_000008.10:g.30938648C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005782.3,



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