rs875989826
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AAG;AAG) | 0 | common in clinvar |
Make rs875989826(-;-) |
Make rs875989826(-;AAG) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 6 |
Position | 43521009 |
Gene | POLR1C |
is a | snp |
is | mentioned by |
dbSNP | rs875989826 |
dbSNP (classic) | rs875989826 |
ClinGen | rs875989826 |
ebi | rs875989826 |
HLI | rs875989826 |
Exac | rs875989826 |
Gnomad | rs875989826 |
Varsome | rs875989826 |
LitVar | rs875989826 |
Map | rs875989826 |
PheGenI | rs875989826 |
Biobank | rs875989826 |
1000 genomes | rs875989826 |
hgdp | rs875989826 |
ensembl | rs875989826 |
geneview | rs875989826 |
scholar | rs875989826 |
rs875989826 | |
pharmgkb | rs875989826 |
gwascentral | rs875989826 |
openSNP | rs875989826 |
23andMe | rs875989826 |
SNPshot | rs875989826 |
SNPdbe | rs875989826 |
MSV3d | rs875989826 |
GWAS Ctlg | rs875989826 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs875989826(-;-) |
Alt | rs875989826(-;-) |
Reference | Rs875989826(AAG;AAG) |
Significance | Pathogenic |
Disease | Leukodystrophy not provided |
Variation | info |
Gene | POLR1C |
CLNDBN | Leukodystrophy, hypomyelinating, 11 not provided |
Reversed | 0 |
HGVS | NC_000006.11:g.43488747_43488749delAAG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000186587.3, RCV000483343.1, |