rs771466122
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs771466122(C;T) |
Make rs771466122(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 154992746 |
Gene | FLAD1, LENEP |
is a | snp |
is | mentioned by |
dbSNP | rs771466122 |
dbSNP (classic) | rs771466122 |
ClinGen | rs771466122 |
ebi | rs771466122 |
HLI | rs771466122 |
Exac | rs771466122 |
Gnomad | rs771466122 |
Varsome | rs771466122 |
LitVar | rs771466122 |
Map | rs771466122 |
PheGenI | rs771466122 |
Biobank | rs771466122 |
1000 genomes | rs771466122 |
hgdp | rs771466122 |
ensembl | rs771466122 |
geneview | rs771466122 |
scholar | rs771466122 |
rs771466122 | |
pharmgkb | rs771466122 |
gwascentral | rs771466122 |
openSNP | rs771466122 |
23andMe | rs771466122 |
SNPshot | rs771466122 |
SNPdbe | rs771466122 |
MSV3d | rs771466122 |
GWAS Ctlg | rs771466122 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs771466122(T;T) |
Alt | rs771466122(T;T) |
Reference | Rs771466122(C;C) |
Significance | Pathogenic |
Disease | Glutaric aciduria Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency |
Variation | info |
Gene | FLAD1 LENEP |
CLNDBN | Glutaric aciduria, type 2 Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency |
Reversed | 0 |
HGVS | NC_000001.10:g.154965222C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000223948.1, RCV000234835.1, |