rs201650281
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs201650281(A;A) |
Make rs201650281(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 16 |
Position | 75635982 |
Gene | KARS |
is a | snp |
is | mentioned by |
dbSNP | rs201650281 |
dbSNP (classic) | rs201650281 |
ClinGen | rs201650281 |
ebi | rs201650281 |
HLI | rs201650281 |
Exac | rs201650281 |
Gnomad | rs201650281 |
Varsome | rs201650281 |
LitVar | rs201650281 |
Map | rs201650281 |
PheGenI | rs201650281 |
Biobank | rs201650281 |
1000 genomes | rs201650281 |
hgdp | rs201650281 |
ensembl | rs201650281 |
geneview | rs201650281 |
scholar | rs201650281 |
rs201650281 | |
pharmgkb | rs201650281 |
gwascentral | rs201650281 |
openSNP | rs201650281 |
23andMe | rs201650281 |
SNPshot | rs201650281 |
SNPdbe | rs201650281 |
MSV3d | rs201650281 |
GWAS Ctlg | rs201650281 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201650281(A;A) |
Alt | rs201650281(A;A) |
Reference | Rs201650281(G;G) |
Significance | Probable-Pathogenic |
Disease | Inborn genetic diseases |
Variation | info |
Gene | KARS |
CLNDBN | Inborn genetic diseases |
Reversed | 0 |
HGVS | NC_000016.9:g.75669880G>A |
CLNSRC | |
CLNACC | RCV000210691.1, |