rs17158558

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	normal
(C;T)		normal
(T;T)		associated in just 1 case with Hirschsprung disease

Reference

GRCh38 38.1/141

Chromosome

10

Position

43124887

Gene

RET

is a	snp
is	mentioned by
dbSNP	rs17158558
dbSNP (classic)	rs17158558
ClinGen	rs17158558
ebi	rs17158558
HLI	rs17158558
Exac	rs17158558
Gnomad	rs17158558
Varsome	rs17158558
LitVar	rs17158558
Map	rs17158558
PheGenI	rs17158558
Biobank	rs17158558
1000 genomes	rs17158558
hgdp	rs17158558
ensembl	rs17158558
geneview	rs17158558
scholar	rs17158558
google	rs17158558
pharmgkb	rs17158558
gwascentral	rs17158558
openSNP	rs17158558
23andMe	rs17158558
SNPshot	rs17158558
SNPdbe	rs17158558
MSV3d	rs17158558
GWAS Ctlg	rs17158558

GMAF

0.01699

Max Magnitude

0

?	(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]

OMIM	164761
Desc	HIRSCHSPRUNG DISEASE
Variant	0036
Related	also

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,