rs875989834
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(ACCGTGTGTACCA;ACCGTGTGTACCA) | 0 | common in clinvar |
Make rs875989834(-;-) |
Make rs875989834(-;CCGTGTGTACCAA) |
Make rs875989834(CCGTGTGTACCAA;CCGTGTGTACCAA) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 11 |
Position | 6394202 |
Gene | SMPD1 |
is a | snp |
is | mentioned by |
dbSNP | rs875989834 |
dbSNP (classic) | rs875989834 |
ClinGen | rs875989834 |
ebi | rs875989834 |
HLI | rs875989834 |
Exac | rs875989834 |
Gnomad | rs875989834 |
Varsome | rs875989834 |
LitVar | rs875989834 |
Map | rs875989834 |
PheGenI | rs875989834 |
Biobank | rs875989834 |
1000 genomes | rs875989834 |
hgdp | rs875989834 |
ensembl | rs875989834 |
geneview | rs875989834 |
scholar | rs875989834 |
rs875989834 | |
pharmgkb | rs875989834 |
gwascentral | rs875989834 |
openSNP | rs875989834 |
23andMe | rs875989834 |
SNPshot | rs875989834 |
SNPdbe | rs875989834 |
MSV3d | rs875989834 |
GWAS Ctlg | rs875989834 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs875989834(-;-) |
Alt | rs875989834(-;-) |
Reference | Rs875989834(ACCGTGTGTACCA;ACCGTGTGTACCA) |
Significance | Pathogenic |
Disease | Niemann-Pick disease |
Variation | info |
Gene | SMPD1 |
CLNDBN | Niemann-Pick disease, type A |
Reversed | 0 |
HGVS | NC_000011.9:g.6415432_6415444delCCGTGTGTACCAA |
CLNSRC | |
CLNACC | RCV000211462.1, |