rs143473232
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs143473232(C;C) |
Make rs143473232(C;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 5 |
Position | 140679789 |
Gene | HARS |
is a | snp |
is | mentioned by |
dbSNP | rs143473232 |
dbSNP (classic) | rs143473232 |
ClinGen | rs143473232 |
ebi | rs143473232 |
HLI | rs143473232 |
Exac | rs143473232 |
Gnomad | rs143473232 |
Varsome | rs143473232 |
LitVar | rs143473232 |
Map | rs143473232 |
PheGenI | rs143473232 |
Biobank | rs143473232 |
1000 genomes | rs143473232 |
hgdp | rs143473232 |
ensembl | rs143473232 |
geneview | rs143473232 |
scholar | rs143473232 |
rs143473232 | |
pharmgkb | rs143473232 |
gwascentral | rs143473232 |
openSNP | rs143473232 |
23andMe | rs143473232 |
SNPshot | rs143473232 |
SNPdbe | rs143473232 |
MSV3d | rs143473232 |
GWAS Ctlg | rs143473232 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs143473232(A;A) rs143473232(C;C) |
Alt | rs143473232(A;A) rs143473232(C;C) |
Reference | Rs143473232(G;G) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease |
Variation | info |
Gene | HARS |
CLNDBN | Charcot-Marie-Tooth disease, axonal, type 2w |
Reversed | 0 |
HGVS | NC_000005.9:g.140059374G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000201522.1, |