rs386134247
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs386134247(-;G) |
Make rs386134247(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 64805645 |
Gene | MEN1 |
is a | snp |
is | mentioned by |
dbSNP | rs386134247 |
dbSNP (classic) | rs386134247 |
ClinGen | rs386134247 |
ebi | rs386134247 |
HLI | rs386134247 |
Exac | rs386134247 |
Gnomad | rs386134247 |
Varsome | rs386134247 |
LitVar | rs386134247 |
Map | rs386134247 |
PheGenI | rs386134247 |
Biobank | rs386134247 |
1000 genomes | rs386134247 |
hgdp | rs386134247 |
ensembl | rs386134247 |
geneview | rs386134247 |
scholar | rs386134247 |
rs386134247 | |
pharmgkb | rs386134247 |
gwascentral | rs386134247 |
openSNP | rs386134247 |
23andMe | rs386134247 |
SNPshot | rs386134247 |
SNPdbe | rs386134247 |
MSV3d | rs386134247 |
GWAS Ctlg | rs386134247 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs386134247(G;G) |
Alt | rs386134247(G;G) |
Reference | Rs386134247(-;-) |
Significance | Probable-Pathogenic |
Disease | Multiple endocrine neoplasia |
Variation | info |
Gene | MEN1 |
CLNDBN | Multiple endocrine neoplasia, type 1 |
Reversed | 1 |
HGVS | NC_000011.9:g.64573118dupC |
CLNSRC | ClinVar LabCorp |
CLNACC | RCV000030194.1, |