rs267608671
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs267608671(A;G) |
Make rs267608671(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 78000043 |
Gene | POLR3A |
is a | snp |
is | mentioned by |
dbSNP | rs267608671 |
dbSNP (classic) | rs267608671 |
ClinGen | rs267608671 |
ebi | rs267608671 |
HLI | rs267608671 |
Exac | rs267608671 |
Gnomad | rs267608671 |
Varsome | rs267608671 |
LitVar | rs267608671 |
Map | rs267608671 |
PheGenI | rs267608671 |
Biobank | rs267608671 |
1000 genomes | rs267608671 |
hgdp | rs267608671 |
ensembl | rs267608671 |
geneview | rs267608671 |
scholar | rs267608671 |
rs267608671 | |
pharmgkb | rs267608671 |
gwascentral | rs267608671 |
openSNP | rs267608671 |
23andMe | rs267608671 |
SNPshot | rs267608671 |
SNPdbe | rs267608671 |
MSV3d | rs267608671 |
GWAS Ctlg | rs267608671 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267608671(G;G) |
Alt | rs267608671(G;G) |
Reference | Rs267608671(A;A) |
Significance | Pathogenic |
Disease | Hypomyelinating leukodystrophy 7 not provided |
Variation | info |
Gene | POLR3A |
CLNDBN | Hypomyelinating leukodystrophy 7 not provided |
Reversed | 1 |
HGVS | NC_000010.10:g.79759801T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000024141.6, RCV000198773.1, RCV000413750.1, |