rs780755978
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CTT;CTT) | 0 | common in clinvar |
Make rs780755978(-;-) |
Make rs780755978(-;CTT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 10 |
Position | 78025092 |
Gene | POLR3A |
is a | snp |
is | mentioned by |
dbSNP | rs780755978 |
dbSNP (classic) | rs780755978 |
ClinGen | rs780755978 |
ebi | rs780755978 |
HLI | rs780755978 |
Exac | rs780755978 |
Gnomad | rs780755978 |
Varsome | rs780755978 |
LitVar | rs780755978 |
Map | rs780755978 |
PheGenI | rs780755978 |
Biobank | rs780755978 |
1000 genomes | rs780755978 |
hgdp | rs780755978 |
ensembl | rs780755978 |
geneview | rs780755978 |
scholar | rs780755978 |
rs780755978 | |
pharmgkb | rs780755978 |
gwascentral | rs780755978 |
openSNP | rs780755978 |
23andMe | rs780755978 |
SNPshot | rs780755978 |
SNPdbe | rs780755978 |
MSV3d | rs780755978 |
GWAS Ctlg | rs780755978 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs780755978(-;-) |
Alt | rs780755978(-;-) |
Reference | Rs780755978(CTT;CTT) |
Significance | Probable-Pathogenic |
Disease | Hypomyelinating leukodystrophy 7 |
Variation | info |
Gene | POLR3A |
CLNDBN | Hypomyelinating leukodystrophy 7 |
Reversed | 0 |
HGVS | NC_000010.10:g.79784850_79784852delCTT |
CLNSRC | |
CLNACC | RCV000198773.1, |