rs104894259
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;T) | 5.8 | Multiple Endocrine Neoplasia Type 1 |
(C;T) | 5.8 | Multiple Endocrine Neoplasia Type 1 |
(T;T) | 0 | common in clinvar |
Make rs104894259(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 64805078 |
Gene | MAP4K2, MEN1 |
is a | snp |
is | mentioned by |
dbSNP | rs104894259 |
dbSNP (classic) | rs104894259 |
ClinGen | rs104894259 |
ebi | rs104894259 |
HLI | rs104894259 |
Exac | rs104894259 |
Gnomad | rs104894259 |
Varsome | rs104894259 |
LitVar | rs104894259 |
Map | rs104894259 |
PheGenI | rs104894259 |
Biobank | rs104894259 |
1000 genomes | rs104894259 |
hgdp | rs104894259 |
ensembl | rs104894259 |
geneview | rs104894259 |
scholar | rs104894259 |
rs104894259 | |
pharmgkb | rs104894259 |
gwascentral | rs104894259 |
openSNP | rs104894259 |
23andMe | rs104894259 |
SNPshot | rs104894259 |
SNPdbe | rs104894259 |
MSV3d | rs104894259 |
GWAS Ctlg | rs104894259 |
Max Magnitude | 5.8 |
ClinVar | |
---|---|
Risk | rs104894259(A;A) rs104894259(C;C) |
Alt | rs104894259(A;A) rs104894259(C;C) |
Reference | Rs104894259(T;T) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia not provided |
Variation | info |
Gene | MAP4K2 MEN1 |
CLNDBN | Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 1 not provided |
Reversed | 1 |
HGVS | NC_000011.9:g.64572550A>G; NC_000011.9:g.64572550A>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000491105.1, RCV000018166.3, RCV000255755.1, |