rs371802902
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs371802902(A;G) |
Make rs371802902(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 6 |
Position | 43519412 |
Gene | POLR1C |
is a | snp |
is | mentioned by |
dbSNP | rs371802902 |
dbSNP (classic) | rs371802902 |
ClinGen | rs371802902 |
ebi | rs371802902 |
HLI | rs371802902 |
Exac | rs371802902 |
Gnomad | rs371802902 |
Varsome | rs371802902 |
LitVar | rs371802902 |
Map | rs371802902 |
PheGenI | rs371802902 |
Biobank | rs371802902 |
1000 genomes | rs371802902 |
hgdp | rs371802902 |
ensembl | rs371802902 |
geneview | rs371802902 |
scholar | rs371802902 |
rs371802902 | |
pharmgkb | rs371802902 |
gwascentral | rs371802902 |
openSNP | rs371802902 |
23andMe | rs371802902 |
SNPshot | rs371802902 |
SNPdbe | rs371802902 |
MSV3d | rs371802902 |
GWAS Ctlg | rs371802902 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs371802902(G;G) |
Alt | rs371802902(G;G) |
Reference | Rs371802902(A;A) |
Significance | Pathogenic |
Disease | Leukodystrophy |
Variation | info |
Gene | POLR1C |
CLNDBN | Leukodystrophy, hypomyelinating, 11 |
Reversed | 0 |
HGVS | NC_000006.11:g.43487150A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000186584.3, |