rs876661312
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GCAGGGGGCATC;GCAGGGGGCATC) | 0 | common in clinvar |
Make rs876661312(CA;CA) |
Make rs876661312(CA;GCAGGGGGCATC) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 154988258 |
Gene | FLAD1 |
is a | snp |
is | mentioned by |
dbSNP | rs876661312 |
dbSNP (classic) | rs876661312 |
ClinGen | rs876661312 |
ebi | rs876661312 |
HLI | rs876661312 |
Exac | rs876661312 |
Gnomad | rs876661312 |
Varsome | rs876661312 |
LitVar | rs876661312 |
Map | rs876661312 |
PheGenI | rs876661312 |
Biobank | rs876661312 |
1000 genomes | rs876661312 |
hgdp | rs876661312 |
ensembl | rs876661312 |
geneview | rs876661312 |
scholar | rs876661312 |
rs876661312 | |
pharmgkb | rs876661312 |
gwascentral | rs876661312 |
openSNP | rs876661312 |
23andMe | rs876661312 |
SNPshot | rs876661312 |
SNPdbe | rs876661312 |
MSV3d | rs876661312 |
GWAS Ctlg | rs876661312 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs876661312(CA;CA) |
Alt | rs876661312(CA;CA) |
Reference | Rs876661312(GCAGGGGGCATC;GCAGGGGGCATC) |
Significance | Pathogenic |
Disease | Glutaric aciduria Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency |
Variation | info |
Gene | FLAD1 |
CLNDBN | Glutaric aciduria, type 2 Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency |
Reversed | 0 |
HGVS | NC_000001.10:g.154960734_154960745delGCAGGGGGCATCinsCA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000223945.1, RCV000234836.2, |