rs146646971
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;G) | 5.1 | Multiple Endocrine Neoplasia IIA |
(G;G) | 0 | common in clinvar |
Make rs146646971(G;T) |
Make rs146646971(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 43114598 |
Gene | RET |
is a | snp |
is | mentioned by |
dbSNP | rs146646971 |
dbSNP (classic) | rs146646971 |
ClinGen | rs146646971 |
ebi | rs146646971 |
HLI | rs146646971 |
Exac | rs146646971 |
Gnomad | rs146646971 |
Varsome | rs146646971 |
LitVar | rs146646971 |
Map | rs146646971 |
PheGenI | rs146646971 |
Biobank | rs146646971 |
1000 genomes | rs146646971 |
hgdp | rs146646971 |
ensembl | rs146646971 |
geneview | rs146646971 |
scholar | rs146646971 |
rs146646971 | |
pharmgkb | rs146646971 |
gwascentral | rs146646971 |
openSNP | rs146646971 |
23andMe | rs146646971 |
SNPshot | rs146646971 |
SNPdbe | rs146646971 |
MSV3d | rs146646971 |
GWAS Ctlg | rs146646971 |
Max Magnitude | 5.1 |
ClinVar | |
---|---|
Risk | rs146646971(C;C) rs146646971(T;T) |
Alt | rs146646971(C;C) rs146646971(T;T) |
Reference | Rs146646971(G;G) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome MEN2 phenotype: Unknown not provided Medullary thyroid carcinoma Multiple endocrine neoplasia Multiple endocrine neoplasia |
Variation | info |
Gene | RET |
CLNDBN | Hereditary cancer-predisposing syndrome MEN2 phenotype: Unknown not provided Medullary thyroid carcinoma Multiple endocrine neoplasia, type 2a Multiple endocrine neoplasia, type 2 |
Reversed | 0 |
HGVS | NC_000010.10:g.43610046G>C; NC_000010.10:g.43610046G>T |
CLNSRC | HGMD |
CLNACC | RCV000219014.1, RCV000021839.1, RCV000082052.4, RCV000148772.1, RCV000174156.1, RCV000467461.1, |