rs751459271
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs751459271(A;G) |
Make rs751459271(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 106504155 |
Gene | LOC100287944, POLR3B |
is a | snp |
is | mentioned by |
dbSNP | rs751459271 |
dbSNP (classic) | rs751459271 |
ClinGen | rs751459271 |
ebi | rs751459271 |
HLI | rs751459271 |
Exac | rs751459271 |
Gnomad | rs751459271 |
Varsome | rs751459271 |
LitVar | rs751459271 |
Map | rs751459271 |
PheGenI | rs751459271 |
Biobank | rs751459271 |
1000 genomes | rs751459271 |
hgdp | rs751459271 |
ensembl | rs751459271 |
geneview | rs751459271 |
scholar | rs751459271 |
rs751459271 | |
pharmgkb | rs751459271 |
gwascentral | rs751459271 |
openSNP | rs751459271 |
23andMe | rs751459271 |
SNPshot | rs751459271 |
SNPdbe | rs751459271 |
MSV3d | rs751459271 |
GWAS Ctlg | rs751459271 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs751459271(G;G) |
Alt | rs751459271(G;G) |
Reference | Rs751459271(A;A) |
Significance | Probable-Pathogenic |
Disease | Hypomyelinating leukodystrophy 8 |
Variation | info |
Gene | LOC100287944 POLR3B |
CLNDBN | Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism |
Reversed | 0 |
HGVS | NC_000012.11:g.106897933A>G |
CLNSRC | |
CLNACC | RCV000193260.1, |