rs104894260
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 rs104894260(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 64805077 |
Gene | MAP4K2, MEN1 |
is a | snp |
is | mentioned by |
dbSNP | rs104894260 |
dbSNP (classic) | rs104894260 |
ClinGen | rs104894260 |
ebi | rs104894260 |
HLI | rs104894260 |
Exac | rs104894260 |
Gnomad | rs104894260 |
Varsome | rs104894260 |
LitVar | rs104894260 |
Map | rs104894260 |
PheGenI | rs104894260 |
Biobank | rs104894260 |
1000 genomes | rs104894260 |
hgdp | rs104894260 |
ensembl | rs104894260 |
geneview | rs104894260 |
scholar | rs104894260 |
rs104894260 | |
pharmgkb | rs104894260 |
gwascentral | rs104894260 |
openSNP | rs104894260 |
23andMe | rs104894260 |
SNPshot | rs104894260 |
SNPdbe | rs104894260 |
MSV3d | rs104894260 |
GWAS Ctlg | rs104894260 |
Max Magnitude | 5.8 |
ClinVar | |
---|---|
Risk | rs104894260(A;A) |
Alt | rs104894260(A;A) |
Reference | Rs104894260(G;G) |
Significance | Pathogenic |
Disease | Multiple endocrine neoplasia |
Variation | info |
Gene | MAP4K2 MEN1 |
CLNDBN | Multiple endocrine neoplasia, type 1 |
Reversed | 1 |
HGVS | NC_000011.9:g.64572549C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000018167.3, |