rs77558292
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 5.1 | Multiple Endocrine Neoplasia IIA |
(G;T) | 5.1 | Multiple Endocrine Neoplasia IIA |
(T;T) | 0 | common in clinvar |
Make rs77558292(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 43113621 |
Gene | RET |
is a | snp |
is | mentioned by |
dbSNP | rs77558292 |
dbSNP (classic) | rs77558292 |
ClinGen | rs77558292 |
ebi | rs77558292 |
HLI | rs77558292 |
Exac | rs77558292 |
Gnomad | rs77558292 |
Varsome | rs77558292 |
LitVar | rs77558292 |
Map | rs77558292 |
PheGenI | rs77558292 |
Biobank | rs77558292 |
1000 genomes | rs77558292 |
hgdp | rs77558292 |
ensembl | rs77558292 |
geneview | rs77558292 |
scholar | rs77558292 |
rs77558292 | |
pharmgkb | rs77558292 |
gwascentral | rs77558292 |
openSNP | rs77558292 |
23andMe | rs77558292 |
SNPshot | rs77558292 |
SNPdbe | rs77558292 |
MSV3d | rs77558292 |
GWAS Ctlg | rs77558292 |
Max Magnitude | 5.1 |
ClinVar | |
---|---|
Risk | rs77558292(A;A) rs77558292(C;C) rs77558292(G;G) |
Alt | rs77558292(A;A) rs77558292(C;C) rs77558292(G;G) |
Reference | Rs77558292(T;T) |
Significance | Pathogenic |
Disease | MEN2 phenotype: Unknown Familial medullary thyroid carcinoma MEN2A and FMTC not provided Multiple endocrine neoplasia |
Variation | info |
Gene | RET |
CLNDBN | MEN2 phenotype: Unknown Familial medullary thyroid carcinoma MEN2A and FMTC not provided Multiple endocrine neoplasia, type 2a |
Reversed | 0 |
HGVS | NC_000010.10:g.43609069T>A; NC_000010.10:g.43609069T>C; NC_000010.10:g.43609069T>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000021775.1, RCV000014971.25, RCV000021776.1, RCV000414355.1, RCV000021777.1, |
[PMID 10982477] Familial form of hirschsprung disease: nucleotide sequence studies reveal point mutations in the RET proto-oncogene in two of six families but not in other candidate genes. [PMID 11955539] Association between c135G/A genotype and RET proto-oncogene germline mutations and phenotype of Hirschsprung's disease.
[PMID 8626834] Mutations of the ret protooncogene in German multiple endocrine neoplasia families: relation between genotype and phenotype. German Medullary Thyroid Carcinoma Study Group.