rs797044899
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs797044899(C;T) |
Make rs797044899(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 70088293 |
Gene | PCBP1, PCBP1-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs797044899 |
dbSNP (classic) | rs797044899 |
ClinGen | rs797044899 |
ebi | rs797044899 |
HLI | rs797044899 |
Exac | rs797044899 |
Gnomad | rs797044899 |
Varsome | rs797044899 |
LitVar | rs797044899 |
Map | rs797044899 |
PheGenI | rs797044899 |
Biobank | rs797044899 |
1000 genomes | rs797044899 |
hgdp | rs797044899 |
ensembl | rs797044899 |
geneview | rs797044899 |
scholar | rs797044899 |
rs797044899 | |
pharmgkb | rs797044899 |
gwascentral | rs797044899 |
openSNP | rs797044899 |
23andMe | rs797044899 |
SNPshot | rs797044899 |
SNPdbe | rs797044899 |
MSV3d | rs797044899 |
GWAS Ctlg | rs797044899 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044899(T;T) |
Alt | rs797044899(T;T) |
Reference | Rs797044899(C;C) |
Significance | Probable-Pathogenic |
Disease | Inborn genetic diseases |
Variation | info |
Gene | PCBP1 PCBP1-AS1 |
CLNDBN | Inborn genetic diseases |
Reversed | 0 |
HGVS | NC_000002.11:g.70315425C>T |
CLNSRC | |
CLNACC | RCV000190723.1, |