rs181087667
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs181087667(C;T) |
Make rs181087667(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 77993368 |
Gene | POLR3A |
is a | snp |
is | mentioned by |
dbSNP | rs181087667 |
dbSNP (classic) | rs181087667 |
ClinGen | rs181087667 |
ebi | rs181087667 |
HLI | rs181087667 |
Exac | rs181087667 |
Gnomad | rs181087667 |
Varsome | rs181087667 |
LitVar | rs181087667 |
Map | rs181087667 |
PheGenI | rs181087667 |
Biobank | rs181087667 |
1000 genomes | rs181087667 |
hgdp | rs181087667 |
ensembl | rs181087667 |
geneview | rs181087667 |
scholar | rs181087667 |
rs181087667 | |
pharmgkb | rs181087667 |
gwascentral | rs181087667 |
openSNP | rs181087667 |
23andMe | rs181087667 |
SNPshot | rs181087667 |
SNPdbe | rs181087667 |
MSV3d | rs181087667 |
GWAS Ctlg | rs181087667 |
GMAF | 0.0 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs181087667(T;T) |
Alt | rs181087667(T;T) |
Reference | Rs181087667(C;C) |
Significance | Pathogenic |
Disease | Hypomyelinating leukodystrophy 7 not provided |
Variation | info |
Gene | POLR3A |
CLNDBN | Hypomyelinating leukodystrophy 7 not provided |
Reversed | 0 |
HGVS | NC_000010.10:g.79753126C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000024142.3, RCV000384524.1, |