rs377767434
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;AGGAGTGTG) | 5.1 | Multiple Endocrine Neoplasia IIA |
Make rs377767434(-;GAGGAGTGT) |
Make rs377767434(GAGGAGTGT;GAGGAGTGT) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 43112169 |
Gene | RET |
is a | snp |
is | mentioned by |
dbSNP | rs377767434 |
dbSNP (classic) | rs377767434 |
ClinGen | rs377767434 |
ebi | rs377767434 |
HLI | rs377767434 |
Exac | rs377767434 |
Gnomad | rs377767434 |
Varsome | rs377767434 |
LitVar | rs377767434 |
Map | rs377767434 |
PheGenI | rs377767434 |
Biobank | rs377767434 |
1000 genomes | rs377767434 |
hgdp | rs377767434 |
ensembl | rs377767434 |
geneview | rs377767434 |
scholar | rs377767434 |
rs377767434 | |
pharmgkb | rs377767434 |
gwascentral | rs377767434 |
openSNP | rs377767434 |
23andMe | rs377767434 |
SNPshot | rs377767434 |
SNPdbe | rs377767434 |
MSV3d | rs377767434 |
GWAS Ctlg | rs377767434 |
Merged from | Rs672601328 |
Max Magnitude | 5.1 |
ClinVar | |
---|---|
Risk | rs377767434(AGGAGTGTG;AGGAGTGTG) rs377767434(GAGGAGTGT;GAGGAGTGT) |
Alt | rs377767434(AGGAGTGTG;AGGAGTGTG) rs377767434(GAGGAGTGT;GAGGAGTGT) |
Reference | Rs377767434(-;-) |
Significance | Pathogenic |
Disease | Familial medullary thyroid carcinoma |
Variation | info |
Gene | RET |
CLNDBN | Familial medullary thyroid carcinoma |
Reversed | 0 |
HGVS | NC_000010.10:g.43607610_43607618dupAGGAGTGTG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000014968.26, |