rs139644798
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common/normal |
(C;T) | 3 | Carrier of a mutation for hypomyelinating Leukodystrophy |
(T;T) | 7 | hypomyelinating Leukodystrophy |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 5 |
Position | 168510601 |
Gene | RARS |
is a | snp |
is | mentioned by |
dbSNP | rs139644798 |
dbSNP (classic) | rs139644798 |
ClinGen | rs139644798 |
ebi | rs139644798 |
HLI | rs139644798 |
Exac | rs139644798 |
Gnomad | rs139644798 |
Varsome | rs139644798 |
LitVar | rs139644798 |
Map | rs139644798 |
PheGenI | rs139644798 |
Biobank | rs139644798 |
1000 genomes | rs139644798 |
hgdp | rs139644798 |
ensembl | rs139644798 |
geneview | rs139644798 |
scholar | rs139644798 |
rs139644798 | |
pharmgkb | rs139644798 |
gwascentral | rs139644798 |
openSNP | rs139644798 |
23andMe | rs139644798 |
SNPshot | rs139644798 |
SNPdbe | rs139644798 |
MSV3d | rs139644798 |
GWAS Ctlg | rs139644798 |
Max Magnitude | 7 |
RARS gene, c.1367C>T (p.Ser456Leu)
Minor allele is reported in ClinVar as pathogenic for hypomyelinating Leukodystrophy
ClinVar | |
---|---|
Risk | Rs139644798(T;T) |
Alt | Rs139644798(T;T) |
Reference | Rs139644798(C;C) |
Significance | Pathogenic |
Disease | Leukodystrophy |
Variation | info |
Gene | RARS |
CLNDBN | Leukodystrophy, hypomyelinating, 9 |
Reversed | 0 |
HGVS | NC_000005.9:g.167937606C>T |
CLNSRC | |
CLNACC | RCV000256219.1, |