rs397516736
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs397516736(A;A) |
Make rs397516736(A;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 120456651 |
Gene | LAMP2 |
is a | snp |
is | mentioned by |
dbSNP | rs397516736 |
dbSNP (classic) | rs397516736 |
ClinGen | rs397516736 |
ebi | rs397516736 |
HLI | rs397516736 |
Exac | rs397516736 |
Gnomad | rs397516736 |
Varsome | rs397516736 |
LitVar | rs397516736 |
Map | rs397516736 |
PheGenI | rs397516736 |
Biobank | rs397516736 |
1000 genomes | rs397516736 |
hgdp | rs397516736 |
ensembl | rs397516736 |
geneview | rs397516736 |
scholar | rs397516736 |
rs397516736 | |
pharmgkb | rs397516736 |
gwascentral | rs397516736 |
openSNP | rs397516736 |
23andMe | rs397516736 |
SNPshot | rs397516736 |
SNPdbe | rs397516736 |
MSV3d | rs397516736 |
GWAS Ctlg | rs397516736 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397516736(A;A) rs397516736(C;C) rs397516736(G;G) |
Alt | rs397516736(A;A) rs397516736(C;C) rs397516736(G;G) |
Reference | Rs397516736(T;T) |
Significance | Probable-Pathogenic |
Disease | Danon disease Cardiovascular phenotype |
Variation | info |
Gene | LAMP2 |
CLNDBN | Danon disease Cardiovascular phenotype |
Reversed | 1 |
HGVS | NC_000023.10:g.119590506A>C; NC_000023.10:g.119590506A>G; NC_000023.10:g.119590506A>T |
CLNSRC | ClinVar |
CLNACC | RCV000037408.2, RCV000250402.1, RCV000037407.2, |