rs28931612
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | |
(G;G) | 0 | common in complete genomics |
Make rs28931612(A;A) |
Make rs28931612(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 64810034 |
Gene | MEN1 |
is a | snp |
is | mentioned by |
dbSNP | rs28931612 |
dbSNP (classic) | rs28931612 |
ClinGen | rs28931612 |
ebi | rs28931612 |
HLI | rs28931612 |
Exac | rs28931612 |
Gnomad | rs28931612 |
Varsome | rs28931612 |
LitVar | rs28931612 |
Map | rs28931612 |
PheGenI | rs28931612 |
Biobank | rs28931612 |
1000 genomes | rs28931612 |
hgdp | rs28931612 |
ensembl | rs28931612 |
geneview | rs28931612 |
scholar | rs28931612 |
rs28931612 | |
pharmgkb | rs28931612 |
gwascentral | rs28931612 |
openSNP | rs28931612 |
23andMe | rs28931612 |
SNPshot | rs28931612 |
SNPdbe | rs28931612 |
MSV3d | rs28931612 |
GWAS Ctlg | rs28931612 |
Max Magnitude | 0 |
NOTE: the OMIM entry cited below refers to a somatic mutation, not a germline SNP
ClinVar | |
---|---|
Risk | rs28931612(A;A) rs28931612(T;T) |
Alt | rs28931612(A;A) rs28931612(T;T) |
Reference | Rs28931612(G;G) |
Significance | Pathogenic |
Disease | Parathyroid adenoma not provided |
Variation | info |
Gene | MEN1 |
CLNDBN | Parathyroid adenoma, somatic not provided |
Reversed | 1 |
HGVS | NC_000011.9:g.64577506C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000018169.5, RCV000490040.1, |