rs1085307086
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Chromosome | 6 |
Position | 43520297 |
Gene | POLR1C |
is a | snp |
is | mentioned by |
dbSNP | rs1085307086 |
dbSNP (classic) | rs1085307086 |
ClinGen | rs1085307086 |
ebi | rs1085307086 |
HLI | rs1085307086 |
Exac | rs1085307086 |
Gnomad | rs1085307086 |
Varsome | rs1085307086 |
LitVar | rs1085307086 |
Map | rs1085307086 |
PheGenI | rs1085307086 |
Biobank | rs1085307086 |
1000 genomes | rs1085307086 |
hgdp | rs1085307086 |
ensembl | rs1085307086 |
geneview | rs1085307086 |
scholar | rs1085307086 |
rs1085307086 | |
pharmgkb | rs1085307086 |
gwascentral | rs1085307086 |
openSNP | rs1085307086 |
23andMe | rs1085307086 |
SNPshot | rs1085307086 |
SNPdbe | rs1085307086 |
MSV3d | rs1085307086 |
GWAS Ctlg | rs1085307086 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1085307086(-;-) |
Alt | rs1085307086(-;-) |
Reference | Rs1085307086(G;G) |
Significance | Probable-Pathogenic |
Disease | Mandibulofacial dysostosis |
Variation | info |
Gene | POLR1C |
CLNDBN | Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive |
Reversed | 0 |
HGVS | NC_000006.11:g.43488035delG |
CLNSRC | |
CLNACC | RCV000490296.1, |