rs672601374
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TG;TG) | 0 | common in clinvar |
Make rs672601374(-;-) |
Make rs672601374(-;TG) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 5 |
Position | 168488652 |
Gene | RARS |
is a | snp |
is | mentioned by |
dbSNP | rs672601374 |
dbSNP (classic) | rs672601374 |
ClinGen | rs672601374 |
ebi | rs672601374 |
HLI | rs672601374 |
Exac | rs672601374 |
Gnomad | rs672601374 |
Varsome | rs672601374 |
LitVar | rs672601374 |
Map | rs672601374 |
PheGenI | rs672601374 |
Biobank | rs672601374 |
1000 genomes | rs672601374 |
hgdp | rs672601374 |
ensembl | rs672601374 |
geneview | rs672601374 |
scholar | rs672601374 |
rs672601374 | |
pharmgkb | rs672601374 |
gwascentral | rs672601374 |
openSNP | rs672601374 |
23andMe | rs672601374 |
SNPshot | rs672601374 |
SNPdbe | rs672601374 |
MSV3d | rs672601374 |
GWAS Ctlg | rs672601374 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs672601374(-;-) |
Alt | rs672601374(-;-) |
Reference | Rs672601374(TG;TG) |
Significance | Pathogenic |
Disease | Leukodystrophy |
Variation | info |
Gene | RARS |
CLNDBN | Leukodystrophy, hypomyelinating, 9 |
Reversed | 0 |
HGVS | NC_000005.9:g.167915657_167915658delTG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000149500.3, |