rs104894268
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 5.8 | Multiple Endocrine Neoplasia Type 1 |
(G;G) | 0 | common in clinvar |
Make rs104894268(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 64807572 |
Gene | MEN1 |
is a | snp |
is | mentioned by |
dbSNP | rs104894268 |
dbSNP (classic) | rs104894268 |
ClinGen | rs104894268 |
ebi | rs104894268 |
HLI | rs104894268 |
Exac | rs104894268 |
Gnomad | rs104894268 |
Varsome | rs104894268 |
LitVar | rs104894268 |
Map | rs104894268 |
PheGenI | rs104894268 |
Biobank | rs104894268 |
1000 genomes | rs104894268 |
hgdp | rs104894268 |
ensembl | rs104894268 |
geneview | rs104894268 |
scholar | rs104894268 |
rs104894268 | |
pharmgkb | rs104894268 |
gwascentral | rs104894268 |
openSNP | rs104894268 |
23andMe | rs104894268 |
SNPshot | rs104894268 |
SNPdbe | rs104894268 |
MSV3d | rs104894268 |
GWAS Ctlg | rs104894268 |
Max Magnitude | 5.8 |
ClinVar | |
---|---|
Risk | rs104894268(A;A) |
Alt | rs104894268(A;A) |
Reference | Rs104894268(G;G) |
Significance | Pathogenic |
Disease | Multiple endocrine neoplasia |
Variation | info |
Gene | MEN1 |
CLNDBN | Multiple endocrine neoplasia, type 1 |
Reversed | 1 |
HGVS | NC_000011.9:g.64575044C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000018176.3, |