rs864309513
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs864309513(A;G) |
Make rs864309513(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 6 |
Position | 31861452 |
Gene | NEU1 |
is a | snp |
is | mentioned by |
dbSNP | rs864309513 |
dbSNP (classic) | rs864309513 |
ClinGen | rs864309513 |
ebi | rs864309513 |
HLI | rs864309513 |
Exac | rs864309513 |
Gnomad | rs864309513 |
Varsome | rs864309513 |
LitVar | rs864309513 |
Map | rs864309513 |
PheGenI | rs864309513 |
Biobank | rs864309513 |
1000 genomes | rs864309513 |
hgdp | rs864309513 |
ensembl | rs864309513 |
geneview | rs864309513 |
scholar | rs864309513 |
rs864309513 | |
pharmgkb | rs864309513 |
gwascentral | rs864309513 |
openSNP | rs864309513 |
23andMe | rs864309513 |
SNPshot | rs864309513 |
SNPdbe | rs864309513 |
MSV3d | rs864309513 |
GWAS Ctlg | rs864309513 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864309513(G;G) |
Alt | rs864309513(G;G) |
Reference | Rs864309513(A;A) |
Significance | Pathogenic |
Disease | Non-immune hydrops fetalis Sialidosis |
Variation | info |
Gene | NEU1 |
CLNDBN | Non-immune hydrops fetalis Sialidosis, type II |
Reversed | 1 |
HGVS | NC_000006.11:g.31829229T>C |
CLNSRC | |
CLNACC | RCV000202579.1, |