rs121964999
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs121964999(G;G) |
Make rs121964999(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 100214929 |
Gene | DBT |
is a | snp |
is | mentioned by |
dbSNP | rs121964999 |
dbSNP (classic) | rs121964999 |
ClinGen | rs121964999 |
ebi | rs121964999 |
HLI | rs121964999 |
Exac | rs121964999 |
Gnomad | rs121964999 |
Varsome | rs121964999 |
LitVar | rs121964999 |
Map | rs121964999 |
PheGenI | rs121964999 |
Biobank | rs121964999 |
1000 genomes | rs121964999 |
hgdp | rs121964999 |
ensembl | rs121964999 |
geneview | rs121964999 |
scholar | rs121964999 |
rs121964999 | |
pharmgkb | rs121964999 |
gwascentral | rs121964999 |
openSNP | rs121964999 |
23andMe | rs121964999 |
SNPshot | rs121964999 |
SNPdbe | rs121964999 |
MSV3d | rs121964999 |
GWAS Ctlg | rs121964999 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121964999(G;G) |
Alt | rs121964999(G;G) |
Reference | Rs121964999(T;T) |
Significance | Pathogenic |
Disease | Maple syrup urine disease not provided Maple syrup urine disease |
Variation | info |
Gene | DBT |
CLNDBN | Maple syrup urine disease, thiamine-responsive, type II not provided Maple syrup urine disease |
Reversed | 1 |
HGVS | NC_000001.10:g.100680485A>C |
CLNSRC | HGMD OMIM Allelic Variant |
CLNACC | RCV000012721.23, RCV000079957.3, RCV000179835.1, |