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rs17158558

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 normal
(C;T) normal
(T;T) associated in just 1 case with Hirschsprung disease
ReferenceGRCh38 38.1/141
Chromosome10
Position43124887
GeneRET
is asnp
is mentioned by
dbSNPrs17158558
ebirs17158558
HLIrs17158558
Exacrs17158558
Varsomers17158558
Maprs17158558
PheGenIrs17158558
hapmaprs17158558
1000 genomesrs17158558
hgdprs17158558
ensemblrs17158558
gopubmedrs17158558
geneviewrs17158558
scholarrs17158558
googlers17158558
pharmgkbrs17158558
gwascentralrs17158558
openSNPrs17158558
23andMers17158558
23andMe allrs17158558
SNP Nexus

SNPshotrs17158558
SNPdbers17158558
MSV3drs17158558
GWAS Ctlgrs17158558
GMAF0.01699
Max Magnitude0
? (C;C) (C;T) (T;T) 28
A complex pattern of mutations involving rs17158558(T) and other mutations simultaneously occurring may - or with greater odds, actually, may not - lead to Hirschsprung disease.[PMID 9760196]
OMIM164761
DescHIRSCHSPRUNG DISEASE
Variant0036
Relatedalso


ClinVar
Risk rs17158558(T;T)
Alt rs17158558(T;T)
Reference rs17158558(C;C)
Significance Other
Disease Hirschsprung disease 1 not provided not specified Multiple endocrine neoplasia Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia Familial medullary thyroid carcinoma
Variation info
Gene RET
CLNDBN Hirschsprung disease 1 not provided not specified Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia Familial medullary thyroid carcinoma
Reversed 0
HGVS NC_000010.10:g.43620335C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000014965.2, RCV000034774.2, RCV000082055.6, RCV000119132.2, RCV000162949.2, RCV000202663.1, RCV000238890.1,



GET Evidence
RET-R982C
aa_change Arg982Cys
aa_change_short R982C
impact pathogenic
qualified_impact Low clinical importance, Uncertain pathogenic
overall_frequency 0.016174
summary Initially suspected of causing Hirschsprung’s disease, this rare variant has been later reported as present in unaffected controls (allele frequency around 1%). Supporting a lack of effect: Panini et al. did not find loss of function effects seen in other variants, and Svensson et al. report unaffected relatives in a family who carried the same variant. OMIM lists it as reported to cause increased susceptibility, but there do not appear to be any statistically significant reports supporting this hypothesis.