rs267608688
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs267608688(C;T) |
Make rs267608688(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 106433739 |
Gene | POLR3B |
is a | snp |
is | mentioned by |
dbSNP | rs267608688 |
dbSNP (classic) | rs267608688 |
ClinGen | rs267608688 |
ebi | rs267608688 |
HLI | rs267608688 |
Exac | rs267608688 |
Gnomad | rs267608688 |
Varsome | rs267608688 |
LitVar | rs267608688 |
Map | rs267608688 |
PheGenI | rs267608688 |
Biobank | rs267608688 |
1000 genomes | rs267608688 |
hgdp | rs267608688 |
ensembl | rs267608688 |
geneview | rs267608688 |
scholar | rs267608688 |
rs267608688 | |
pharmgkb | rs267608688 |
gwascentral | rs267608688 |
openSNP | rs267608688 |
23andMe | rs267608688 |
SNPshot | rs267608688 |
SNPdbe | rs267608688 |
MSV3d | rs267608688 |
GWAS Ctlg | rs267608688 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267608688(T;T) |
Alt | rs267608688(T;T) |
Reference | Rs267608688(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.106827517C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000024158.4, |