rs797045895
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TTC;TTC) | 0 | common in clinvar |
Make rs797045895(-;-) |
Make rs797045895(-;CTT) |
Make rs797045895(CTT;CTT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 106432465 |
Gene | POLR3B |
is a | snp |
is | mentioned by |
dbSNP | rs797045895 |
dbSNP (classic) | rs797045895 |
ClinGen | rs797045895 |
ebi | rs797045895 |
HLI | rs797045895 |
Exac | rs797045895 |
Gnomad | rs797045895 |
Varsome | rs797045895 |
LitVar | rs797045895 |
Map | rs797045895 |
PheGenI | rs797045895 |
Biobank | rs797045895 |
1000 genomes | rs797045895 |
hgdp | rs797045895 |
ensembl | rs797045895 |
geneview | rs797045895 |
scholar | rs797045895 |
rs797045895 | |
pharmgkb | rs797045895 |
gwascentral | rs797045895 |
openSNP | rs797045895 |
23andMe | rs797045895 |
SNPshot | rs797045895 |
SNPdbe | rs797045895 |
MSV3d | rs797045895 |
GWAS Ctlg | rs797045895 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045895(-;-) |
Alt | rs797045895(-;-) |
Reference | Rs797045895(TTC;TTC) |
Significance | Probable-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.106826243_106826245delCTT |
CLNSRC | |
CLNACC | RCV000195224.1, |