rs140540222
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs140540222(C;T) |
Make rs140540222(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 5 |
Position | 140695556 |
Gene | HARS2 |
is a | snp |
is | mentioned by |
dbSNP | rs140540222 |
dbSNP (classic) | rs140540222 |
ClinGen | rs140540222 |
ebi | rs140540222 |
HLI | rs140540222 |
Exac | rs140540222 |
Gnomad | rs140540222 |
Varsome | rs140540222 |
LitVar | rs140540222 |
Map | rs140540222 |
PheGenI | rs140540222 |
Biobank | rs140540222 |
1000 genomes | rs140540222 |
hgdp | rs140540222 |
ensembl | rs140540222 |
geneview | rs140540222 |
scholar | rs140540222 |
rs140540222 | |
pharmgkb | rs140540222 |
gwascentral | rs140540222 |
openSNP | rs140540222 |
23andMe | rs140540222 |
SNPshot | rs140540222 |
SNPdbe | rs140540222 |
MSV3d | rs140540222 |
GWAS Ctlg | rs140540222 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs140540222(T;T) |
Alt | rs140540222(T;T) |
Reference | Rs140540222(C;C) |
Significance | Probable-Pathogenic |
Disease | not provided not specified |
Variation | info |
Gene | HARS2 |
CLNDBN | not provided not specified |
Reversed | 0 |
HGVS | NC_000005.9:g.140075141C>T |
CLNSRC | |
CLNACC | RCV000199285.1, RCV000223531.1, |