rs397515410
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs397515410(C;G) |
Make rs397515410(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 140695810 |
Gene | HARS2 |
is a | snp |
is | mentioned by |
dbSNP | rs397515410 |
dbSNP (classic) | rs397515410 |
ClinGen | rs397515410 |
ebi | rs397515410 |
HLI | rs397515410 |
Exac | rs397515410 |
Gnomad | rs397515410 |
Varsome | rs397515410 |
LitVar | rs397515410 |
Map | rs397515410 |
PheGenI | rs397515410 |
Biobank | rs397515410 |
1000 genomes | rs397515410 |
hgdp | rs397515410 |
ensembl | rs397515410 |
geneview | rs397515410 |
scholar | rs397515410 |
rs397515410 | |
pharmgkb | rs397515410 |
gwascentral | rs397515410 |
openSNP | rs397515410 |
23andMe | rs397515410 |
SNPshot | rs397515410 |
SNPdbe | rs397515410 |
MSV3d | rs397515410 |
GWAS Ctlg | rs397515410 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397515410(G;G) |
Alt | rs397515410(G;G) |
Reference | Rs397515410(C;C) |
Significance | Other |
Disease | Perrault syndrome 2 |
Variation | info |
Gene | HARS2 |
CLNDBN | Perrault syndrome 2 |
Reversed | 0 |
HGVS | NC_000005.9:g.140075395C>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000032820.6, |