rs864309488
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs864309488(A;G) |
Make rs864309488(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 6 |
Position | 24777296 |
Gene | GMNN |
is a | snp |
is | mentioned by |
dbSNP | rs864309488 |
dbSNP (classic) | rs864309488 |
ClinGen | rs864309488 |
ebi | rs864309488 |
HLI | rs864309488 |
Exac | rs864309488 |
Gnomad | rs864309488 |
Varsome | rs864309488 |
LitVar | rs864309488 |
Map | rs864309488 |
PheGenI | rs864309488 |
Biobank | rs864309488 |
1000 genomes | rs864309488 |
hgdp | rs864309488 |
ensembl | rs864309488 |
geneview | rs864309488 |
scholar | rs864309488 |
rs864309488 | |
pharmgkb | rs864309488 |
gwascentral | rs864309488 |
openSNP | rs864309488 |
23andMe | rs864309488 |
SNPshot | rs864309488 |
SNPdbe | rs864309488 |
MSV3d | rs864309488 |
GWAS Ctlg | rs864309488 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864309488(G;G) |
Alt | rs864309488(G;G) |
Reference | Rs864309488(A;A) |
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.24777524A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000202432.1, RCV000208587.1, |