rs104893985
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs104893985(C;T) |
Make rs104893985(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 31862112 |
Gene | NEU1 |
is a | snp |
is | mentioned by |
dbSNP | rs104893985 |
dbSNP (classic) | rs104893985 |
ClinGen | rs104893985 |
ebi | rs104893985 |
HLI | rs104893985 |
Exac | rs104893985 |
Gnomad | rs104893985 |
Varsome | rs104893985 |
LitVar | rs104893985 |
Map | rs104893985 |
PheGenI | rs104893985 |
Biobank | rs104893985 |
1000 genomes | rs104893985 |
hgdp | rs104893985 |
ensembl | rs104893985 |
geneview | rs104893985 |
scholar | rs104893985 |
rs104893985 | |
pharmgkb | rs104893985 |
gwascentral | rs104893985 |
openSNP | rs104893985 |
23andMe | rs104893985 |
SNPshot | rs104893985 |
SNPdbe | rs104893985 |
MSV3d | rs104893985 |
GWAS Ctlg | rs104893985 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104893985(T;T) |
Alt | rs104893985(T;T) |
Reference | Rs104893985(C;C) |
Significance | Pathogenic |
Disease | Sialidosis |
Variation | info |
Gene | NEU1 |
CLNDBN | Sialidosis, type II |
Reversed | 1 |
HGVS | NC_000006.11:g.31829889G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000002556.2, |