rs267608683
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs267608683(A;A) |
Make rs267608683(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 106432361 |
Gene | POLR3B |
is a | snp |
is | mentioned by |
dbSNP | rs267608683 |
dbSNP (classic) | rs267608683 |
ClinGen | rs267608683 |
ebi | rs267608683 |
HLI | rs267608683 |
Exac | rs267608683 |
Gnomad | rs267608683 |
Varsome | rs267608683 |
LitVar | rs267608683 |
Map | rs267608683 |
PheGenI | rs267608683 |
Biobank | rs267608683 |
1000 genomes | rs267608683 |
hgdp | rs267608683 |
ensembl | rs267608683 |
geneview | rs267608683 |
scholar | rs267608683 |
rs267608683 | |
pharmgkb | rs267608683 |
gwascentral | rs267608683 |
openSNP | rs267608683 |
23andMe | rs267608683 |
SNPshot | rs267608683 |
SNPdbe | rs267608683 |
MSV3d | rs267608683 |
GWAS Ctlg | rs267608683 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267608683(A;A) |
Alt | rs267608683(A;A) |
Reference | Rs267608683(C;C) |
Significance | Pathogenic |
Disease | Hypomyelinating leukodystrophy 8 |
Variation | info |
Gene | POLR3B |
CLNDBN | Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism |
Reversed | 0 |
HGVS | NC_000012.11:g.106826139C>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000032279.4, |