rs386134257
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TGGCTGAGC;TGGCTGAGC) | 0 | common in clinvar |
Make rs386134257(GCCCCT;GCCCCT) |
Make rs386134257(GCCCCT;TGGCTGAGC) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 64807893 |
Gene | MEN1 |
is a | snp |
is | mentioned by |
dbSNP | rs386134257 |
dbSNP (classic) | rs386134257 |
ClinGen | rs386134257 |
ebi | rs386134257 |
HLI | rs386134257 |
Exac | rs386134257 |
Gnomad | rs386134257 |
Varsome | rs386134257 |
LitVar | rs386134257 |
Map | rs386134257 |
PheGenI | rs386134257 |
Biobank | rs386134257 |
1000 genomes | rs386134257 |
hgdp | rs386134257 |
ensembl | rs386134257 |
geneview | rs386134257 |
scholar | rs386134257 |
rs386134257 | |
pharmgkb | rs386134257 |
gwascentral | rs386134257 |
openSNP | rs386134257 |
23andMe | rs386134257 |
SNPshot | rs386134257 |
SNPdbe | rs386134257 |
MSV3d | rs386134257 |
GWAS Ctlg | rs386134257 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs386134257(GCCCCT;GCCCCT) |
Alt | rs386134257(GCCCCT;GCCCCT) |
Reference | Rs386134257(TGGCTGAGC;TGGCTGAGC) |
Significance | Probable-Pathogenic |
Disease | Multiple endocrine neoplasia |
Variation | info |
Gene | MEN1 |
CLNDBN | Multiple endocrine neoplasia, type 1 |
Reversed | 1 |
HGVS | NC_000011.9:g.64575365_64575373delGCTCAGCCAinsAGGGGC |
CLNSRC | ClinVar |
CLNACC | RCV000030206.1, |