rs121964988
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121964988(C;T) |
Make rs121964988(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 107919098 |
Gene | DLD |
is a | snp |
is | mentioned by |
dbSNP | rs121964988 |
dbSNP (classic) | rs121964988 |
ClinGen | rs121964988 |
ebi | rs121964988 |
HLI | rs121964988 |
Exac | rs121964988 |
Gnomad | rs121964988 |
Varsome | rs121964988 |
LitVar | rs121964988 |
Map | rs121964988 |
PheGenI | rs121964988 |
Biobank | rs121964988 |
1000 genomes | rs121964988 |
hgdp | rs121964988 |
ensembl | rs121964988 |
geneview | rs121964988 |
scholar | rs121964988 |
rs121964988 | |
pharmgkb | rs121964988 |
gwascentral | rs121964988 |
openSNP | rs121964988 |
23andMe | rs121964988 |
SNPshot | rs121964988 |
SNPdbe | rs121964988 |
MSV3d | rs121964988 |
GWAS Ctlg | rs121964988 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121964988(T;T) |
Alt | rs121964988(T;T) |
Reference | Rs121964988(C;C) |
Significance | Pathogenic |
Disease | Maple syrup urine disease |
Variation | info |
Gene | DLD |
CLNDBN | Maple syrup urine disease, type 3 |
Reversed | 0 |
HGVS | NC_000007.13:g.107559543C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000012743.23, |