rs377767391
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;T) | 5.1 | Multiple Endocrine Neoplasia IIA |
(G;T) | 5.1 | Multiple Endocrine Neoplasia IIA |
(T;T) | 0 | common in clinvar |
Make rs377767391(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 43113627 |
Gene | RET |
is a | snp |
is | mentioned by |
dbSNP | rs377767391 |
dbSNP (classic) | rs377767391 |
ClinGen | rs377767391 |
ebi | rs377767391 |
HLI | rs377767391 |
Exac | rs377767391 |
Gnomad | rs377767391 |
Varsome | rs377767391 |
LitVar | rs377767391 |
Map | rs377767391 |
PheGenI | rs377767391 |
Biobank | rs377767391 |
1000 genomes | rs377767391 |
hgdp | rs377767391 |
ensembl | rs377767391 |
geneview | rs377767391 |
scholar | rs377767391 |
rs377767391 | |
pharmgkb | rs377767391 |
gwascentral | rs377767391 |
openSNP | rs377767391 |
23andMe | rs377767391 |
SNPshot | rs377767391 |
SNPdbe | rs377767391 |
MSV3d | rs377767391 |
GWAS Ctlg | rs377767391 |
Max Magnitude | 5.1 |
ClinVar | |
---|---|
Risk | rs377767391(A;A) rs377767391(C;C) rs377767391(G;G) |
Alt | rs377767391(A;A) rs377767391(C;C) rs377767391(G;G) |
Reference | Rs377767391(T;T) |
Significance | Pathogenic |
Disease | MEN2 phenotype: Unclassified FMTC and Unclassified |
Variation | info |
Gene | RET |
CLNDBN | MEN2 phenotype: Unclassified FMTC and Unclassified |
Reversed | 0 |
HGVS | NC_000010.10:g.43609075T>A; NC_000010.10:g.43609075T>C; NC_000010.10:g.43609075T>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000021769.1, RCV000021782.1, RCV000021783.1, |