rs727505300
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TG;TG) | 0 | common in clinvar |
Make rs727505300(-;-) |
Make rs727505300(-;TG) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 108898003 |
Gene | GPSM2 |
is a | snp |
is | mentioned by |
dbSNP | rs727505300 |
dbSNP (classic) | rs727505300 |
ClinGen | rs727505300 |
ebi | rs727505300 |
HLI | rs727505300 |
Exac | rs727505300 |
Gnomad | rs727505300 |
Varsome | rs727505300 |
LitVar | rs727505300 |
Map | rs727505300 |
PheGenI | rs727505300 |
Biobank | rs727505300 |
1000 genomes | rs727505300 |
hgdp | rs727505300 |
ensembl | rs727505300 |
geneview | rs727505300 |
scholar | rs727505300 |
rs727505300 | |
pharmgkb | rs727505300 |
gwascentral | rs727505300 |
openSNP | rs727505300 |
23andMe | rs727505300 |
SNPshot | rs727505300 |
SNPdbe | rs727505300 |
MSV3d | rs727505300 |
GWAS Ctlg | rs727505300 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727505300(-;-) |
Alt | rs727505300(-;-) |
Reference | Rs727505300(TG;TG) |
Significance | Pathogenic |
Disease | Chudley-McCullough syndrome |
Variation | info |
Gene | GPSM2 |
CLNDBN | Chudley-McCullough syndrome |
Reversed | 0 |
HGVS | NC_000001.10:g.109440625_109440626delTG |
CLNSRC | |
CLNACC | RCV000156837.1, |