rs876657648
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs876657648(G;G) |
Make rs876657648(G;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 120442615 |
Gene | LAMP2 |
is a | snp |
is | mentioned by |
dbSNP | rs876657648 |
dbSNP (classic) | rs876657648 |
ClinGen | rs876657648 |
ebi | rs876657648 |
HLI | rs876657648 |
Exac | rs876657648 |
Gnomad | rs876657648 |
Varsome | rs876657648 |
LitVar | rs876657648 |
Map | rs876657648 |
PheGenI | rs876657648 |
Biobank | rs876657648 |
1000 genomes | rs876657648 |
hgdp | rs876657648 |
ensembl | rs876657648 |
geneview | rs876657648 |
scholar | rs876657648 |
rs876657648 | |
pharmgkb | rs876657648 |
gwascentral | rs876657648 |
openSNP | rs876657648 |
23andMe | rs876657648 |
SNPshot | rs876657648 |
SNPdbe | rs876657648 |
MSV3d | rs876657648 |
GWAS Ctlg | rs876657648 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs876657648(G;G) |
Alt | rs876657648(G;G) |
Reference | Rs876657648(T;T) |
Significance | Probable-Pathogenic |
Disease | Danon disease |
Variation | info |
Gene | LAMP2 |
CLNDBN | Danon disease |
Reversed | 1 |
HGVS | NC_000023.10:g.119576470A>C |
CLNSRC | |
CLNACC | RCV000219626.1, |