rs730882136
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;GCCCC) | 5.8 | Multiple Endocrine Neoplasia Type 1 |
Make rs730882136(GCCCC;GCCCC) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 64809903 |
Gene | MEN1 |
is a | snp |
is | mentioned by |
dbSNP | rs730882136 |
dbSNP (classic) | rs730882136 |
ClinGen | rs730882136 |
ebi | rs730882136 |
HLI | rs730882136 |
Exac | rs730882136 |
Gnomad | rs730882136 |
Varsome | rs730882136 |
LitVar | rs730882136 |
Map | rs730882136 |
PheGenI | rs730882136 |
Biobank | rs730882136 |
1000 genomes | rs730882136 |
hgdp | rs730882136 |
ensembl | rs730882136 |
geneview | rs730882136 |
scholar | rs730882136 |
rs730882136 | |
pharmgkb | rs730882136 |
gwascentral | rs730882136 |
openSNP | rs730882136 |
23andMe | rs730882136 |
SNPshot | rs730882136 |
SNPdbe | rs730882136 |
MSV3d | rs730882136 |
GWAS Ctlg | rs730882136 |
Max Magnitude | 5.8 |
ClinVar | |
---|---|
Risk | rs730882136(GCCCC;GCCCC) |
Alt | rs730882136(GCCCC;GCCCC) |
Reference | Rs730882136(-;-) |
Significance | Pathogenic |
Disease | Multiple endocrine neoplasia not provided |
Variation | info |
Gene | MEN1 |
CLNDBN | Multiple endocrine neoplasia, type 1 not provided |
Reversed | 1 |
HGVS | NC_000011.9:g.64577376_64577380dupGGGGC |
CLNSRC | |
CLNACC | RCV000161945.2, RCV000182459.1, |