rs77316810
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;T) | 5.1 | Multiple Endocrine Neoplasia IIA |
(C;T) | 5.1 | Multiple Endocrine Neoplasia IIA |
(G;T) | 5.1 | Multiple Endocrine Neoplasia IIA |
(T;T) | 0 | common in clinvar |
Make rs77316810(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 43113654 |
Gene | RET |
is a | snp |
is | mentioned by |
dbSNP | rs77316810 |
dbSNP (classic) | rs77316810 |
ClinGen | rs77316810 |
ebi | rs77316810 |
HLI | rs77316810 |
Exac | rs77316810 |
Gnomad | rs77316810 |
Varsome | rs77316810 |
LitVar | rs77316810 |
Map | rs77316810 |
PheGenI | rs77316810 |
Biobank | rs77316810 |
1000 genomes | rs77316810 |
hgdp | rs77316810 |
ensembl | rs77316810 |
geneview | rs77316810 |
scholar | rs77316810 |
rs77316810 | |
pharmgkb | rs77316810 |
gwascentral | rs77316810 |
openSNP | rs77316810 |
23andMe | rs77316810 |
SNPshot | rs77316810 |
SNPdbe | rs77316810 |
MSV3d | rs77316810 |
GWAS Ctlg | rs77316810 |
Max Magnitude | 5.1 |
ClinVar | |
---|---|
Risk | rs77316810(A;A) rs77316810(C;C) rs77316810(G;G) |
Alt | rs77316810(A;A) rs77316810(C;C) rs77316810(G;G) |
Reference | Rs77316810(T;T) |
Significance | Pathogenic |
Disease | MEN2A and Unclassified Multiple endocrine neoplasia MEN2A and FMTC not provided Multiple endocrine neoplasia |
Variation | info |
Gene | RET |
CLNDBN | MEN2A and Unclassified Multiple endocrine neoplasia, type 2a MEN2A and FMTC not provided Multiple endocrine neoplasia, type 2 |
Reversed | 0 |
HGVS | NC_000010.10:g.43609102T>A; NC_000010.10:g.43609102T>C; NC_000010.10:g.43609102T>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000021798.1, RCV000014935.24, RCV000021799.1, RCV000182580.3, RCV000232285.2, RCV000021800.1, |
[PMID 10777380] Unilateral renal agenesis in a family with medullary thyroid carcinoma. [PMID 7849720] RET proto-oncogene mutations in inherited and sporadic medullary thyroid cancer.
[PMID 9223675] Novel germline RET proto-oncogene mutations associated with medullary thyroid carcinoma (MTC): mutation analysis in Japanese patients with MTC.