rs200118797
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs200118797(C;T) |
Make rs200118797(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 77985960 |
Gene | POLR3A |
is a | snp |
is | mentioned by |
dbSNP | rs200118797 |
dbSNP (classic) | rs200118797 |
ClinGen | rs200118797 |
ebi | rs200118797 |
HLI | rs200118797 |
Exac | rs200118797 |
Gnomad | rs200118797 |
Varsome | rs200118797 |
LitVar | rs200118797 |
Map | rs200118797 |
PheGenI | rs200118797 |
Biobank | rs200118797 |
1000 genomes | rs200118797 |
hgdp | rs200118797 |
ensembl | rs200118797 |
geneview | rs200118797 |
scholar | rs200118797 |
rs200118797 | |
pharmgkb | rs200118797 |
gwascentral | rs200118797 |
openSNP | rs200118797 |
23andMe | rs200118797 |
SNPshot | rs200118797 |
SNPdbe | rs200118797 |
MSV3d | rs200118797 |
GWAS Ctlg | rs200118797 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200118797(T;T) |
Alt | rs200118797(T;T) |
Reference | Rs200118797(C;C) |
Significance | Pathogenic |
Disease | Hypomyelinating leukodystrophy 7 |
Variation | info |
Gene | POLR3A |
CLNDBN | Hypomyelinating leukodystrophy 7 |
Reversed | 0 |
HGVS | NC_000010.10:g.79745718C>T |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000034146.2, |