rs121965001
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121965001(C;G) |
Make rs121965001(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 100230872 |
Gene | DBT |
is a | snp |
is | mentioned by |
dbSNP | rs121965001 |
dbSNP (classic) | rs121965001 |
ClinGen | rs121965001 |
ebi | rs121965001 |
HLI | rs121965001 |
Exac | rs121965001 |
Gnomad | rs121965001 |
Varsome | rs121965001 |
LitVar | rs121965001 |
Map | rs121965001 |
PheGenI | rs121965001 |
Biobank | rs121965001 |
1000 genomes | rs121965001 |
hgdp | rs121965001 |
ensembl | rs121965001 |
geneview | rs121965001 |
scholar | rs121965001 |
rs121965001 | |
pharmgkb | rs121965001 |
gwascentral | rs121965001 |
openSNP | rs121965001 |
23andMe | rs121965001 |
SNPshot | rs121965001 |
SNPdbe | rs121965001 |
MSV3d | rs121965001 |
GWAS Ctlg | rs121965001 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121965001(G;G) |
Alt | rs121965001(G;G) |
Reference | Rs121965001(C;C) |
Significance | Pathogenic |
Disease | Intermediate maple syrup urine disease type 2 |
Variation | info |
Gene | DBT |
CLNDBN | Intermediate maple syrup urine disease type 2 |
Reversed | 1 |
HGVS | NC_000001.10:g.100696428G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012726.23, |