rs377767404
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 5.1 | Multiple Endocrine Neoplasia IIA |
(T;T) | 0 | common in clinvar |
Make rs377767404(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 43114488 |
Gene | RET |
is a | snp |
is | mentioned by |
dbSNP | rs377767404 |
dbSNP (classic) | rs377767404 |
ClinGen | rs377767404 |
ebi | rs377767404 |
HLI | rs377767404 |
Exac | rs377767404 |
Gnomad | rs377767404 |
Varsome | rs377767404 |
LitVar | rs377767404 |
Map | rs377767404 |
PheGenI | rs377767404 |
Biobank | rs377767404 |
1000 genomes | rs377767404 |
hgdp | rs377767404 |
ensembl | rs377767404 |
geneview | rs377767404 |
scholar | rs377767404 |
rs377767404 | |
pharmgkb | rs377767404 |
gwascentral | rs377767404 |
openSNP | rs377767404 |
23andMe | rs377767404 |
SNPshot | rs377767404 |
SNPdbe | rs377767404 |
MSV3d | rs377767404 |
GWAS Ctlg | rs377767404 |
Max Magnitude | 5.1 |
ClinVar | |
---|---|
Risk | rs377767404(C;C) |
Alt | rs377767404(C;C) |
Reference | Rs377767404(T;T) |
Significance | Pathogenic |
Disease | MEN2A and FMTC Multiple endocrine neoplasia Multiple endocrine neoplasia Multiple endocrine neoplasia Multiple endocrine neoplasia Medullary thyroid carcinoma |
Variation | info |
Gene | RET |
CLNDBN | MEN2A and FMTC Multiple endocrine neoplasia, type 4 Multiple endocrine neoplasia, type 2b Multiple endocrine neoplasia, type 1 Multiple endocrine neoplasia, type 2a Medullary thyroid carcinoma |
Reversed | 0 |
HGVS | NC_000010.10:g.43609936T>C |
CLNSRC | ClinVar |
CLNACC | RCV000021806.1, RCV000418588.1, RCV000428845.1, RCV000429498.1, RCV000436253.1, RCV000440788.1, |