rs863224873
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs863224873(A;T) |
Make rs863224873(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 7 |
Position | 30612212 |
Gene | GARS |
is a | snp |
is | mentioned by |
dbSNP | rs863224873 |
dbSNP (classic) | rs863224873 |
ClinGen | rs863224873 |
ebi | rs863224873 |
HLI | rs863224873 |
Exac | rs863224873 |
Gnomad | rs863224873 |
Varsome | rs863224873 |
LitVar | rs863224873 |
Map | rs863224873 |
PheGenI | rs863224873 |
Biobank | rs863224873 |
1000 genomes | rs863224873 |
hgdp | rs863224873 |
ensembl | rs863224873 |
geneview | rs863224873 |
scholar | rs863224873 |
rs863224873 | |
pharmgkb | rs863224873 |
gwascentral | rs863224873 |
openSNP | rs863224873 |
23andMe | rs863224873 |
SNPshot | rs863224873 |
SNPdbe | rs863224873 |
MSV3d | rs863224873 |
GWAS Ctlg | rs863224873 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863224873(C;C) rs863224873(T;T) |
Alt | rs863224873(C;C) rs863224873(T;T) |
Reference | Rs863224873(A;A) |
Significance | Probable-Pathogenic |
Disease | not provided Charcot-Marie-Tooth disease type 2D Distal hereditary motor neuronopathy type 5 |
Variation | info |
Gene | GARS |
CLNDBN | not provided Charcot-Marie-Tooth disease type 2D Distal hereditary motor neuronopathy type 5 |
Reversed | 0 |
HGVS | NC_000007.13:g.30651828A>C; NC_000007.13:g.30651828A>T |
CLNSRC | |
CLNACC | RCV000484050.1, RCV000195583.1, |