rs145191476
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs145191476(A;A) |
Make rs145191476(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 108924060 |
Gene | GPSM2 |
is a | snp |
is | mentioned by |
dbSNP | rs145191476 |
dbSNP (classic) | rs145191476 |
ClinGen | rs145191476 |
ebi | rs145191476 |
HLI | rs145191476 |
Exac | rs145191476 |
Gnomad | rs145191476 |
Varsome | rs145191476 |
LitVar | rs145191476 |
Map | rs145191476 |
PheGenI | rs145191476 |
Biobank | rs145191476 |
1000 genomes | rs145191476 |
hgdp | rs145191476 |
ensembl | rs145191476 |
geneview | rs145191476 |
scholar | rs145191476 |
rs145191476 | |
pharmgkb | rs145191476 |
gwascentral | rs145191476 |
openSNP | rs145191476 |
23andMe | rs145191476 |
SNPshot | rs145191476 |
SNPdbe | rs145191476 |
MSV3d | rs145191476 |
GWAS Ctlg | rs145191476 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs145191476(A;A) |
Alt | rs145191476(A;A) |
Reference | Rs145191476(C;C) |
Significance | Pathogenic |
Disease | Chudley-McCullough syndrome |
Variation | info |
Gene | GPSM2 |
CLNDBN | Chudley-McCullough syndrome |
Reversed | 0 |
HGVS | NC_000001.10:g.109466682C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000029165.4, |