rs397516752
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs397516752(C;C) |
Make rs397516752(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 120442663 |
Gene | LAMP2 |
is a | snp |
is | mentioned by |
dbSNP | rs397516752 |
dbSNP (classic) | rs397516752 |
ClinGen | rs397516752 |
ebi | rs397516752 |
HLI | rs397516752 |
Exac | rs397516752 |
Gnomad | rs397516752 |
Varsome | rs397516752 |
LitVar | rs397516752 |
Map | rs397516752 |
PheGenI | rs397516752 |
Biobank | rs397516752 |
1000 genomes | rs397516752 |
hgdp | rs397516752 |
ensembl | rs397516752 |
geneview | rs397516752 |
scholar | rs397516752 |
rs397516752 | |
pharmgkb | rs397516752 |
gwascentral | rs397516752 |
openSNP | rs397516752 |
23andMe | rs397516752 |
SNPshot | rs397516752 |
SNPdbe | rs397516752 |
MSV3d | rs397516752 |
GWAS Ctlg | rs397516752 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397516752(C;C) |
Alt | rs397516752(C;C) |
Reference | Rs397516752(G;G) |
Significance | Probable-Pathogenic |
Disease | Danon disease |
Variation | info |
Gene | LAMP2 |
CLNDBN | Danon disease |
Reversed | 1 |
HGVS | NC_000023.10:g.119576518C>G |
CLNSRC | ClinVar |
CLNACC | RCV000037433.2, |