rs79853121

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs79853121(C;T)

Make rs79853121(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

43126651

Gene

RET

is a	snp
is	mentioned by
dbSNP	rs79853121
dbSNP (classic)	rs79853121
ClinGen	rs79853121
ebi	rs79853121
HLI	rs79853121
Exac	rs79853121
Gnomad	rs79853121
Varsome	rs79853121
LitVar	rs79853121
Map	rs79853121
PheGenI	rs79853121
Biobank	rs79853121
1000 genomes	rs79853121
hgdp	rs79853121
ensembl	rs79853121
geneview	rs79853121
scholar	rs79853121
google	rs79853121
pharmgkb	rs79853121
gwascentral	rs79853121
openSNP	rs79853121
23andMe	rs79853121
SNPshot	rs79853121
SNPdbe	rs79853121
MSV3d	rs79853121
GWAS Ctlg	rs79853121

Max Magnitude

0

OMIM	164761
Desc
Variant	0046
Related	also

ClinVar
Risk	rs79853121(A;A) rs79853121(T;T)
Alt	rs79853121(A;A) rs79853121(T;T)
Reference	Rs79853121(C;C)
Significance	Pathogenic
Disease	not specified Central hypoventilation syndrome Hirschsprung disease Multiple endocrine neoplasia Multiple endocrine neoplasia
Variation	info
Gene	RET
CLNDBN	not specified Central hypoventilation syndrome, congenital, with hirschsprung disease Hirschsprung disease Multiple endocrine neoplasia, type 2b Multiple endocrine neoplasia, type 2a
Reversed	0
HGVS	NC_000010.10:g.43622099C>A; NC_000010.10:g.43622099C>T
CLNSRC	UniProtKB (protein) OMIM Allelic Variant
CLNACC	RCV000121984.1, RCV000014975.26, RCV000148783.1, RCV000410425.1, RCV000411688.1,

[PMID 9497256] Mutations of the RET-GDNF signaling pathway in Ondine's curse.