rs121913034
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs121913034(A;T) |
Make rs121913034(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 64809707 |
Gene | MEN1 |
is a | snp |
is | mentioned by |
dbSNP | rs121913034 |
dbSNP (classic) | rs121913034 |
ClinGen | rs121913034 |
ebi | rs121913034 |
HLI | rs121913034 |
Exac | rs121913034 |
Gnomad | rs121913034 |
Varsome | rs121913034 |
LitVar | rs121913034 |
Map | rs121913034 |
PheGenI | rs121913034 |
Biobank | rs121913034 |
1000 genomes | rs121913034 |
hgdp | rs121913034 |
ensembl | rs121913034 |
geneview | rs121913034 |
scholar | rs121913034 |
rs121913034 | |
pharmgkb | rs121913034 |
gwascentral | rs121913034 |
openSNP | rs121913034 |
23andMe | rs121913034 |
SNPshot | rs121913034 |
SNPdbe | rs121913034 |
MSV3d | rs121913034 |
GWAS Ctlg | rs121913034 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121913034(C;C) rs121913034(T;T) |
Alt | rs121913034(C;C) rs121913034(T;T) |
Reference | Rs121913034(A;A) |
Significance | Pathogenic |
Disease | Angiofibroma Multiple endocrine neoplasia |
Variation | info |
Gene | MEN1 |
CLNDBN | Angiofibroma, somatic Multiple endocrine neoplasia, type 1 |
Reversed | 1 |
HGVS | NC_000011.9:g.64577179T>A; NC_000011.9:g.64577179T>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000018174.4, RCV000226206.2, |