rs864309487
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AATC;AATC) | 0 | common in clinvar |
Make rs864309487(-;-) |
Make rs864309487(-;TCAA) |
Make rs864309487(TCAA;TCAA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 6 |
Position | 24777281 |
Gene | GMNN |
is a | snp |
is | mentioned by |
dbSNP | rs864309487 |
dbSNP (classic) | rs864309487 |
ClinGen | rs864309487 |
ebi | rs864309487 |
HLI | rs864309487 |
Exac | rs864309487 |
Gnomad | rs864309487 |
Varsome | rs864309487 |
LitVar | rs864309487 |
Map | rs864309487 |
PheGenI | rs864309487 |
Biobank | rs864309487 |
1000 genomes | rs864309487 |
hgdp | rs864309487 |
ensembl | rs864309487 |
geneview | rs864309487 |
scholar | rs864309487 |
rs864309487 | |
pharmgkb | rs864309487 |
gwascentral | rs864309487 |
openSNP | rs864309487 |
23andMe | rs864309487 |
SNPshot | rs864309487 |
SNPdbe | rs864309487 |
MSV3d | rs864309487 |
GWAS Ctlg | rs864309487 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864309487(-;-) |
Alt | rs864309487(-;-) |
Reference | Rs864309487(AATC;AATC) |
Significance | Pathogenic |
Disease | Meier-Gorlin syndrome Meier-gorlin syndrome 6 |
Variation | info |
Gene | GMNN |
CLNDBN | Meier-Gorlin syndrome Meier-gorlin syndrome 6 |
Reversed | 0 |
HGVS | NC_000006.11:g.24777509_24777512delTCAA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000202431.1, RCV000208583.1, |