rs201861847
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs201861847(C;C) |
Make rs201861847(C;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 5 |
Position | 146153928 |
Gene | LARS |
is a | snp |
is | mentioned by |
dbSNP | rs201861847 |
dbSNP (classic) | rs201861847 |
ClinGen | rs201861847 |
ebi | rs201861847 |
HLI | rs201861847 |
Exac | rs201861847 |
Gnomad | rs201861847 |
Varsome | rs201861847 |
LitVar | rs201861847 |
Map | rs201861847 |
PheGenI | rs201861847 |
Biobank | rs201861847 |
1000 genomes | rs201861847 |
hgdp | rs201861847 |
ensembl | rs201861847 |
geneview | rs201861847 |
scholar | rs201861847 |
rs201861847 | |
pharmgkb | rs201861847 |
gwascentral | rs201861847 |
openSNP | rs201861847 |
23andMe | rs201861847 |
SNPshot | rs201861847 |
SNPdbe | rs201861847 |
MSV3d | rs201861847 |
GWAS Ctlg | rs201861847 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201861847(C;C) |
Alt | rs201861847(C;C) |
Reference | Rs201861847(T;T) |
Significance | Pathogenic |
Disease | Infantile liver failure syndrome 1 |
Variation | info |
Gene | LARS |
CLNDBN | Infantile liver failure syndrome 1 |
Reversed | 0 |
HGVS | NC_000005.9:g.145533491T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000055666.31, |