rs875989832
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs875989832(-;-) |
Make rs875989832(-;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 11 |
Position | 6391860 |
Gene | SMPD1 |
is a | snp |
is | mentioned by |
dbSNP | rs875989832 |
dbSNP (classic) | rs875989832 |
ClinGen | rs875989832 |
ebi | rs875989832 |
HLI | rs875989832 |
Exac | rs875989832 |
Gnomad | rs875989832 |
Varsome | rs875989832 |
LitVar | rs875989832 |
Map | rs875989832 |
PheGenI | rs875989832 |
Biobank | rs875989832 |
1000 genomes | rs875989832 |
hgdp | rs875989832 |
ensembl | rs875989832 |
geneview | rs875989832 |
scholar | rs875989832 |
rs875989832 | |
pharmgkb | rs875989832 |
gwascentral | rs875989832 |
openSNP | rs875989832 |
23andMe | rs875989832 |
SNPshot | rs875989832 |
SNPdbe | rs875989832 |
MSV3d | rs875989832 |
GWAS Ctlg | rs875989832 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs875989832(-;-) |
Alt | rs875989832(-;-) |
Reference | Rs875989832(G;G) |
Significance | Pathogenic |
Disease | Niemann-Pick disease |
Variation | info |
Gene | SMPD1 |
CLNDBN | Niemann-Pick disease, type A |
Reversed | 0 |
HGVS | NC_000011.9:g.6413090delG |
CLNSRC | |
CLNACC | RCV000211485.1, |