rs727503895
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TTACCTTGTTAC;TTACCTTGTTAC) | 0 | common in clinvar |
Make rs727503895(-;-) |
Make rs727503895(-;TTACCTTGTTAC) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 100218751 |
Gene | DBT |
is a | snp |
is | mentioned by |
dbSNP | rs727503895 |
dbSNP (classic) | rs727503895 |
ClinGen | rs727503895 |
ebi | rs727503895 |
HLI | rs727503895 |
Exac | rs727503895 |
Gnomad | rs727503895 |
Varsome | rs727503895 |
LitVar | rs727503895 |
Map | rs727503895 |
PheGenI | rs727503895 |
Biobank | rs727503895 |
1000 genomes | rs727503895 |
hgdp | rs727503895 |
ensembl | rs727503895 |
geneview | rs727503895 |
scholar | rs727503895 |
rs727503895 | |
pharmgkb | rs727503895 |
gwascentral | rs727503895 |
openSNP | rs727503895 |
23andMe | rs727503895 |
SNPshot | rs727503895 |
SNPdbe | rs727503895 |
MSV3d | rs727503895 |
GWAS Ctlg | rs727503895 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727503895(-;-) |
Alt | rs727503895(-;-) |
Reference | Rs727503895(TTACCTTGTTAC;TTACCTTGTTAC) |
Significance | Pathogenic |
Disease | not provided Maple syrup urine disease |
Variation | info |
Gene | DBT |
CLNDBN | not provided Maple syrup urine disease |
Reversed | 1 |
HGVS | NC_000001.10:g.100684307_100684318delGTAACAAGGTAA |
CLNSRC | HGMD |
CLNACC | RCV000153138.2, RCV000178857.1, |