rs3026785

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)		may be protective against Hirschsprung disease
(C;T)		may be protective against Hirschsprung disease
(T;T)	0	normal

Reference

GRCh38 38.1/141

Chromosome

10

Position

43130238

Gene

RET

is a	snp
is	mentioned by
dbSNP	rs3026785
dbSNP (classic)	rs3026785
ClinGen	rs3026785
ebi	rs3026785
HLI	rs3026785
Exac	rs3026785
Gnomad	rs3026785
Varsome	rs3026785
LitVar	rs3026785
Map	rs3026785
PheGenI	rs3026785
Biobank	rs3026785
1000 genomes	rs3026785
hgdp	rs3026785
ensembl	rs3026785
geneview	rs3026785
scholar	rs3026785
google	rs3026785
pharmgkb	rs3026785
gwascentral	rs3026785
openSNP	rs3026785
23andMe	rs3026785
SNPshot	rs3026785
SNPdbe	rs3026785
MSV3d	rs3026785
GWAS Ctlg	rs3026785

GMAF

0.03398

Max Magnitude

0

?	(C;C) (C;T) (T;T)	28

Associated with protection from Hirschsprung disease

See OMIM 164761.0052

OMIM	164761
Desc
Variant	0052
Related	also

ClinVar
Risk	Rs3026785(C;C)
Alt	Rs3026785(C;C)
Reference	Rs3026785(T;T)
Significance	Other
Disease	Hirschsprung disease Renal adysplasia Pheochromocytoma Multiple endocrine neoplasia Hirschsprung Disease
Variation	info
Gene	RET
CLNDBN	Hirschsprung disease, protection against Renal adysplasia Pheochromocytoma Multiple endocrine neoplasia Hirschsprung Disease, Dominant
Reversed	0
HGVS	NC_000010.10:g.43625686T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000014982.3, RCV000288793.1, RCV000328614.1, RCV000350648.1, RCV000380866.1,