rs528069912
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs528069912(-;-) |
Make rs528069912(-;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 108898938 |
Gene | GPSM2 |
is a | snp |
is | mentioned by |
dbSNP | rs528069912 |
dbSNP (classic) | rs528069912 |
ClinGen | rs528069912 |
ebi | rs528069912 |
HLI | rs528069912 |
Exac | rs528069912 |
Gnomad | rs528069912 |
Varsome | rs528069912 |
LitVar | rs528069912 |
Map | rs528069912 |
PheGenI | rs528069912 |
Biobank | rs528069912 |
1000 genomes | rs528069912 |
hgdp | rs528069912 |
ensembl | rs528069912 |
geneview | rs528069912 |
scholar | rs528069912 |
rs528069912 | |
pharmgkb | rs528069912 |
gwascentral | rs528069912 |
openSNP | rs528069912 |
23andMe | rs528069912 |
SNPshot | rs528069912 |
SNPdbe | rs528069912 |
MSV3d | rs528069912 |
GWAS Ctlg | rs528069912 |
Merged from | Rs794726687 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs528069912(-;-) |
Alt | rs528069912(-;-) |
Reference | Rs528069912(C;C) |
Significance | Pathogenic |
Disease | Chudley-McCullough syndrome not provided |
Variation | info |
Gene | GPSM2 |
CLNDBN | Chudley-McCullough syndrome not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.109441561delC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000029164.4, RCV000223985.1, |