rs572314014
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs572314014(A;A) |
Make rs572314014(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 16 |
Position | 46693187 |
Gene | ORC6 |
is a | snp |
is | mentioned by |
dbSNP | rs572314014 |
dbSNP (classic) | rs572314014 |
ClinGen | rs572314014 |
ebi | rs572314014 |
HLI | rs572314014 |
Exac | rs572314014 |
Gnomad | rs572314014 |
Varsome | rs572314014 |
LitVar | rs572314014 |
Map | rs572314014 |
PheGenI | rs572314014 |
Biobank | rs572314014 |
1000 genomes | rs572314014 |
hgdp | rs572314014 |
ensembl | rs572314014 |
geneview | rs572314014 |
scholar | rs572314014 |
rs572314014 | |
pharmgkb | rs572314014 |
gwascentral | rs572314014 |
openSNP | rs572314014 |
23andMe | rs572314014 |
SNPshot | rs572314014 |
SNPdbe | rs572314014 |
MSV3d | rs572314014 |
GWAS Ctlg | rs572314014 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs572314014(A;A) |
Alt | rs572314014(A;A) |
Reference | Rs572314014(G;G) |
Significance | Pathogenic |
Disease | Meier-Gorlin syndrome 3 |
Variation | info |
Gene | ORC6 |
CLNDBN | Meier-Gorlin syndrome 3 |
Reversed | 0 |
HGVS | NC_000016.9:g.46727099G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000239658.1, |