rs794727252
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AGCCTGTTGAGTGGGCTGGGCCC;AGCCTGTTGAGTGGGCTGGGCCC) | 0 | common in clinvar |
Make rs794727252(-;-) |
Make rs794727252(-;TGTTGAGTGGGCTGGGCCCAGCC) |
Make rs794727252(TGTTGAGTGGGCTGGGCCCAGCC;TGTTGAGTGGGCTGGGCCCAGCC) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 6391850 |
Gene | SMPD1 |
is a | snp |
is | mentioned by |
dbSNP | rs794727252 |
dbSNP (classic) | rs794727252 |
ClinGen | rs794727252 |
ebi | rs794727252 |
HLI | rs794727252 |
Exac | rs794727252 |
Gnomad | rs794727252 |
Varsome | rs794727252 |
LitVar | rs794727252 |
Map | rs794727252 |
PheGenI | rs794727252 |
Biobank | rs794727252 |
1000 genomes | rs794727252 |
hgdp | rs794727252 |
ensembl | rs794727252 |
geneview | rs794727252 |
scholar | rs794727252 |
rs794727252 | |
pharmgkb | rs794727252 |
gwascentral | rs794727252 |
openSNP | rs794727252 |
23andMe | rs794727252 |
SNPshot | rs794727252 |
SNPdbe | rs794727252 |
MSV3d | rs794727252 |
GWAS Ctlg | rs794727252 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794727252(-;-) |
Alt | rs794727252(-;-) |
Reference | Rs794727252(AGCCTGTTGAGTGGGCTGGGCCC;AGCCTGTTGAGTGGGCTGGGCCC) |
Significance | Pathogenic |
Disease | Niemann-Pick disease |
Variation | info |
Gene | SMPD1 |
CLNDBN | Niemann-Pick disease, type B |
Reversed | 0 |
HGVS | NC_000011.9:g.6413080_6413102delTGTTGAGTGGGCTGGGCCCAGCC |
CLNSRC | |
CLNACC | RCV000175621.1, |