rs746607723
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs746607723(A;A) |
Make rs746607723(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 6 |
Position | 31859797 |
Gene | NEU1 |
is a | snp |
is | mentioned by |
dbSNP | rs746607723 |
dbSNP (classic) | rs746607723 |
ClinGen | rs746607723 |
ebi | rs746607723 |
HLI | rs746607723 |
Exac | rs746607723 |
Gnomad | rs746607723 |
Varsome | rs746607723 |
LitVar | rs746607723 |
Map | rs746607723 |
PheGenI | rs746607723 |
Biobank | rs746607723 |
1000 genomes | rs746607723 |
hgdp | rs746607723 |
ensembl | rs746607723 |
geneview | rs746607723 |
scholar | rs746607723 |
rs746607723 | |
pharmgkb | rs746607723 |
gwascentral | rs746607723 |
openSNP | rs746607723 |
23andMe | rs746607723 |
SNPshot | rs746607723 |
SNPdbe | rs746607723 |
MSV3d | rs746607723 |
GWAS Ctlg | rs746607723 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs746607723(A;A) rs746607723(C;C) rs746607723(T;T) |
Alt | rs746607723(A;A) rs746607723(C;C) rs746607723(T;T) |
Reference | Rs746607723(G;G) |
Significance | Pathogenic |
Disease | Non-immune hydrops fetalis Sialidosis |
Variation | info |
Gene | NEU1 |
CLNDBN | Non-immune hydrops fetalis Sialidosis, type II |
Reversed | 0 |
HGVS | NC_000006.11:g.31827574G>C |
CLNSRC | |
CLNACC | RCV000202594.1, |