Have questions? Visit https://www.reddit.com/r/SNPedia

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
dbSNP (old)rs17158558
ClinGenrs17158558
ebirs17158558
HLIrs17158558
Exacrs17158558
Gnomadrs17158558
Varsomers17158558
LitVarrs17158558
Maprs17158558
PheGenIrs17158558
Biobankrs17158558
1000 genomesrs17158558
hgdprs17158558
ensemblrs17158558
gopubmedrs17158558
geneviewrs17158558
scholarrs17158558
googlers17158558
pharmgkbrs17158558
gwascentralrs17158558
openSNPrs17158558
23andMers17158558
23andMe allrs17158558
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 Hirschsprung Disease Pheochromocytoma Renal adysplasia Multiple endocrine neoplasia Multiple endocrine neoplasia
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 Hirschsprung Disease, Dominant Pheochromocytoma Renal adysplasia Multiple endocrine neoplasia, type 2b Multiple endocrine neoplasia, type 2a
Reversed 0
HGVS NC_000010.10:g.43620335C>T
CLNSRC HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014965.2, RCV000034774.3, RCV000082055.8, RCV000119132.3, RCV000162949.2, RCV000202663.2, RCV000238890.1, RCV000260187.1, RCV000320112.1, RCV000354936.1, RCV000410308.1, RCV000411820.1,