rs104894858
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6 | Familial hypertrophic cardiomyopathy (possible) |
(G;G) | 0 | common in clinvar |
Make rs104894858(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 120442599 |
Gene | LAMP2 |
is a | snp |
is | mentioned by |
dbSNP | rs104894858 |
dbSNP (classic) | rs104894858 |
ClinGen | rs104894858 |
ebi | rs104894858 |
HLI | rs104894858 |
Exac | rs104894858 |
Gnomad | rs104894858 |
Varsome | rs104894858 |
LitVar | rs104894858 |
Map | rs104894858 |
PheGenI | rs104894858 |
Biobank | rs104894858 |
1000 genomes | rs104894858 |
hgdp | rs104894858 |
ensembl | rs104894858 |
geneview | rs104894858 |
scholar | rs104894858 |
rs104894858 | |
pharmgkb | rs104894858 |
gwascentral | rs104894858 |
openSNP | rs104894858 |
23andMe | rs104894858 |
SNPshot | rs104894858 |
SNPdbe | rs104894858 |
MSV3d | rs104894858 |
GWAS Ctlg | rs104894858 |
Max Magnitude | 6 |
The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to [PMID 25611685].
ClinVar | |
---|---|
Risk | rs104894858(A;A) |
Alt | rs104894858(A;A) |
Reference | Rs104894858(G;G) |
Significance | Pathogenic |
Disease | Danon disease not provided |
Variation | info |
Gene | LAMP2 |
CLNDBN | Danon disease not provided |
Reversed | 1 |
HGVS | NC_000023.10:g.119576454C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000010663.3, RCV000157981.1, |