rs886042881
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AGACA;AGACA) | 0 | common in clinvar |
Chromosome | 6 |
Position | 31859733 |
Gene | NEU1 |
is a | snp |
is | mentioned by |
dbSNP | rs886042881 |
dbSNP (classic) | rs886042881 |
ClinGen | rs886042881 |
ebi | rs886042881 |
HLI | rs886042881 |
Exac | rs886042881 |
Gnomad | rs886042881 |
Varsome | rs886042881 |
LitVar | rs886042881 |
Map | rs886042881 |
PheGenI | rs886042881 |
Biobank | rs886042881 |
1000 genomes | rs886042881 |
hgdp | rs886042881 |
ensembl | rs886042881 |
geneview | rs886042881 |
scholar | rs886042881 |
rs886042881 | |
pharmgkb | rs886042881 |
gwascentral | rs886042881 |
openSNP | rs886042881 |
23andMe | rs886042881 |
SNPshot | rs886042881 |
SNPdbe | rs886042881 |
MSV3d | rs886042881 |
GWAS Ctlg | rs886042881 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886042881(TTTGGC;TTTGGC) |
Alt | rs886042881(TTTGGC;TTTGGC) |
Reference | Rs886042881(AGACA;AGACA) |
Significance | Probable-Pathogenic |
Disease | Sialidosis |
Variation | info |
Gene | NEU1 |
CLNDBN | Sialidosis, type II |
Reversed | 0 |
HGVS | NC_000006.11:g.31827510_31827514delAGACAinsTTTGGC |
CLNSRC | |
CLNACC | RCV000269268.1, |