rs879255606
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs879255606(C;T) |
Make rs879255606(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 3 |
Position | 45491566 |
Gene | LARS2, LARS2-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs879255606 |
dbSNP (classic) | rs879255606 |
ClinGen | rs879255606 |
ebi | rs879255606 |
HLI | rs879255606 |
Exac | rs879255606 |
Gnomad | rs879255606 |
Varsome | rs879255606 |
LitVar | rs879255606 |
Map | rs879255606 |
PheGenI | rs879255606 |
Biobank | rs879255606 |
1000 genomes | rs879255606 |
hgdp | rs879255606 |
ensembl | rs879255606 |
geneview | rs879255606 |
scholar | rs879255606 |
rs879255606 | |
pharmgkb | rs879255606 |
gwascentral | rs879255606 |
openSNP | rs879255606 |
23andMe | rs879255606 |
SNPshot | rs879255606 |
SNPdbe | rs879255606 |
MSV3d | rs879255606 |
GWAS Ctlg | rs879255606 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879255606(T;T) |
Alt | rs879255606(T;T) |
Reference | Rs879255606(C;C) |
Significance | Pathogenic |
Disease | Hydrops |
Variation | info |
Gene | LARS2 LARS2-AS1 |
CLNDBN | Hydrops, lactic acidosis, and sideroblastic anemia |
Reversed | 0 |
HGVS | NC_000003.11:g.45533058C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000235638.2, |