rs797045105
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs797045105(-;CATG) |
Make rs797045105(CATG;CATG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 6 |
Position | 158150452 |
Gene | SERAC1 |
is a | snp |
is | mentioned by |
dbSNP | rs797045105 |
dbSNP (classic) | rs797045105 |
ClinGen | rs797045105 |
ebi | rs797045105 |
HLI | rs797045105 |
Exac | rs797045105 |
Gnomad | rs797045105 |
Varsome | rs797045105 |
LitVar | rs797045105 |
Map | rs797045105 |
PheGenI | rs797045105 |
Biobank | rs797045105 |
1000 genomes | rs797045105 |
hgdp | rs797045105 |
ensembl | rs797045105 |
geneview | rs797045105 |
scholar | rs797045105 |
rs797045105 | |
pharmgkb | rs797045105 |
gwascentral | rs797045105 |
openSNP | rs797045105 |
23andMe | rs797045105 |
SNPshot | rs797045105 |
SNPdbe | rs797045105 |
MSV3d | rs797045105 |
GWAS Ctlg | rs797045105 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045105(CATG;CATG) |
Alt | rs797045105(CATG;CATG) |
Reference | Rs797045105(-;-) |
Significance | Probable-Pathogenic |
Disease | 3-methylglutaconic aciduria with deafness |
Variation | info |
Gene | SERAC1 |
CLNDBN | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
Reversed | 1 |
HGVS | NC_000006.11:g.158571484_158571485insCATG |
CLNSRC | |
CLNACC | RCV000190622.1, |