rs28934603
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs28934603(C;C) |
Make rs28934603(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 45891761 |
Gene | CTSA, NEURL2 |
is a | snp |
is | mentioned by |
dbSNP | rs28934603 |
dbSNP (classic) | rs28934603 |
ClinGen | rs28934603 |
ebi | rs28934603 |
HLI | rs28934603 |
Exac | rs28934603 |
Gnomad | rs28934603 |
Varsome | rs28934603 |
LitVar | rs28934603 |
Map | rs28934603 |
PheGenI | rs28934603 |
Biobank | rs28934603 |
1000 genomes | rs28934603 |
hgdp | rs28934603 |
ensembl | rs28934603 |
geneview | rs28934603 |
scholar | rs28934603 |
rs28934603 | |
pharmgkb | rs28934603 |
gwascentral | rs28934603 |
openSNP | rs28934603 |
23andMe | rs28934603 |
SNPshot | rs28934603 |
SNPdbe | rs28934603 |
MSV3d | rs28934603 |
GWAS Ctlg | rs28934603 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28934603(C;C) |
Alt | rs28934603(C;C) |
Reference | Rs28934603(T;T) |
Significance | Pathogenic |
Disease | Combined deficiency of sialidase AND beta galactosidase |
Variation | info |
Gene | CTSA NEURL2 |
CLNDBN | Combined deficiency of sialidase AND beta galactosidase |
Reversed | 0 |
HGVS | NC_000020.10:g.44520400T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000409.4, |