rs797044797
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs797044797(C;C) |
Make rs797044797(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 6391481 |
Gene | SMPD1 |
is a | snp |
is | mentioned by |
dbSNP | rs797044797 |
dbSNP (classic) | rs797044797 |
ClinGen | rs797044797 |
ebi | rs797044797 |
HLI | rs797044797 |
Exac | rs797044797 |
Gnomad | rs797044797 |
Varsome | rs797044797 |
LitVar | rs797044797 |
Map | rs797044797 |
PheGenI | rs797044797 |
Biobank | rs797044797 |
1000 genomes | rs797044797 |
hgdp | rs797044797 |
ensembl | rs797044797 |
geneview | rs797044797 |
scholar | rs797044797 |
rs797044797 | |
pharmgkb | rs797044797 |
gwascentral | rs797044797 |
openSNP | rs797044797 |
23andMe | rs797044797 |
SNPshot | rs797044797 |
SNPdbe | rs797044797 |
MSV3d | rs797044797 |
GWAS Ctlg | rs797044797 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044797(C;C) |
Alt | rs797044797(C;C) |
Reference | Rs797044797(T;T) |
Significance | Pathogenic |
Disease | Sphingomyelin/cholesterol lipidosis |
Variation | info |
Gene | SMPD1 |
CLNDBN | Sphingomyelin/cholesterol lipidosis |
Reversed | 0 |
HGVS | NC_000011.9:g.6412711T>C |
CLNSRC | |
CLNACC | RCV000192219.1, |