rs267608674
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs267608674(G;T) |
Make rs267608674(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 77991125 |
Gene | POLR3A |
is a | snp |
is | mentioned by |
dbSNP | rs267608674 |
dbSNP (classic) | rs267608674 |
ClinGen | rs267608674 |
ebi | rs267608674 |
HLI | rs267608674 |
Exac | rs267608674 |
Gnomad | rs267608674 |
Varsome | rs267608674 |
LitVar | rs267608674 |
Map | rs267608674 |
PheGenI | rs267608674 |
Biobank | rs267608674 |
1000 genomes | rs267608674 |
hgdp | rs267608674 |
ensembl | rs267608674 |
geneview | rs267608674 |
scholar | rs267608674 |
rs267608674 | |
pharmgkb | rs267608674 |
gwascentral | rs267608674 |
openSNP | rs267608674 |
23andMe | rs267608674 |
SNPshot | rs267608674 |
SNPdbe | rs267608674 |
MSV3d | rs267608674 |
GWAS Ctlg | rs267608674 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267608674(A;A) rs267608674(T;T) |
Alt | rs267608674(A;A) rs267608674(T;T) |
Reference | Rs267608674(G;G) |
Significance | Pathogenic |
Disease | Hypomyelinating leukodystrophy 7 |
Variation | info |
Gene | POLR3A |
CLNDBN | Hypomyelinating leukodystrophy 7 |
Reversed | 1 |
HGVS | NC_000010.10:g.79750883C>A |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000034145.2, |