rs786204003
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GA;GA) | 0 | common in clinvar |
Make rs786204003(AT;AT) |
Make rs786204003(AT;GA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 32810729 |
Gene | YARS |
is a | snp |
is | mentioned by |
dbSNP | rs786204003 |
dbSNP (classic) | rs786204003 |
ClinGen | rs786204003 |
ebi | rs786204003 |
HLI | rs786204003 |
Exac | rs786204003 |
Gnomad | rs786204003 |
Varsome | rs786204003 |
LitVar | rs786204003 |
Map | rs786204003 |
PheGenI | rs786204003 |
Biobank | rs786204003 |
1000 genomes | rs786204003 |
hgdp | rs786204003 |
ensembl | rs786204003 |
geneview | rs786204003 |
scholar | rs786204003 |
rs786204003 | |
pharmgkb | rs786204003 |
gwascentral | rs786204003 |
openSNP | rs786204003 |
23andMe | rs786204003 |
SNPshot | rs786204003 |
SNPdbe | rs786204003 |
MSV3d | rs786204003 |
GWAS Ctlg | rs786204003 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786204003(AT;AT) |
Alt | rs786204003(AT;AT) |
Reference | Rs786204003(GA;GA) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease |
Variation | info |
Gene | YARS |
CLNDBN | Charcot-Marie-Tooth disease, dominant intermediate C |
Reversed | 1 |
HGVS | NC_000001.10:g.33276330_33276331delTCinsAT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000167583.4, |