rs797044461
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs797044461(-;AACA) |
Make rs797044461(AACA;AACA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 147939224 |
Gene | ORC4 |
is a | snp |
is | mentioned by |
dbSNP | rs797044461 |
dbSNP (classic) | rs797044461 |
ClinGen | rs797044461 |
ebi | rs797044461 |
HLI | rs797044461 |
Exac | rs797044461 |
Gnomad | rs797044461 |
Varsome | rs797044461 |
LitVar | rs797044461 |
Map | rs797044461 |
PheGenI | rs797044461 |
Biobank | rs797044461 |
1000 genomes | rs797044461 |
hgdp | rs797044461 |
ensembl | rs797044461 |
geneview | rs797044461 |
scholar | rs797044461 |
rs797044461 | |
pharmgkb | rs797044461 |
gwascentral | rs797044461 |
openSNP | rs797044461 |
23andMe | rs797044461 |
SNPshot | rs797044461 |
SNPdbe | rs797044461 |
MSV3d | rs797044461 |
GWAS Ctlg | rs797044461 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044461(AACA;AACA) |
Alt | rs797044461(AACA;AACA) |
Reference | Rs797044461(-;-) |
Significance | Pathogenic |
Disease | Meier-Gorlin syndrome 2 |
Variation | info |
Gene | ORC4 |
CLNDBN | Meier-Gorlin syndrome 2 |
Reversed | 1 |
HGVS | NC_000002.11:g.148696794_148696797dupTGTT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000023231.3, |