rs80069458

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;G)	5.1	Multiple Endocrine Neoplasia IIA

Make rs80069458(G;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

43113629

Gene

RET

is a	snp
is	mentioned by
dbSNP	rs80069458
dbSNP (classic)	rs80069458
ClinGen	rs80069458
ebi	rs80069458
HLI	rs80069458
Exac	rs80069458
Gnomad	rs80069458
Varsome	rs80069458
LitVar	rs80069458
Map	rs80069458
PheGenI	rs80069458
Biobank	rs80069458
1000 genomes	rs80069458
hgdp	rs80069458
ensembl	rs80069458
geneview	rs80069458
scholar	rs80069458
google	rs80069458
pharmgkb	rs80069458
gwascentral	rs80069458
openSNP	rs80069458
23andMe	rs80069458
SNPshot	rs80069458
SNPdbe	rs80069458
MSV3d	rs80069458
GWAS Ctlg	rs80069458

Max Magnitude

5.1

OMIM	164761
Desc
Variant	0007
Related	also

ClinVar
Risk	rs80069458(G;G)
Alt	rs80069458(G;G)
Reference	Rs80069458(C;C)
Significance	Pathogenic
Disease	Multiple endocrine neoplasia MEN2A and FMTC
Variation	info
Gene	RET
CLNDBN	Multiple endocrine neoplasia, type 2a MEN2A and FMTC
Reversed	0
HGVS	NC_000010.10:g.43609077C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014932.25, RCV000021788.1,

[PMID 7907913] Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC.