rs730880483
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs730880483(A;A) |
Make rs730880483(A;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 120446374 |
Gene | LAMP2 |
is a | snp |
is | mentioned by |
dbSNP | rs730880483 |
dbSNP (classic) | rs730880483 |
ClinGen | rs730880483 |
ebi | rs730880483 |
HLI | rs730880483 |
Exac | rs730880483 |
Gnomad | rs730880483 |
Varsome | rs730880483 |
LitVar | rs730880483 |
Map | rs730880483 |
PheGenI | rs730880483 |
Biobank | rs730880483 |
1000 genomes | rs730880483 |
hgdp | rs730880483 |
ensembl | rs730880483 |
geneview | rs730880483 |
scholar | rs730880483 |
rs730880483 | |
pharmgkb | rs730880483 |
gwascentral | rs730880483 |
openSNP | rs730880483 |
23andMe | rs730880483 |
SNPshot | rs730880483 |
SNPdbe | rs730880483 |
MSV3d | rs730880483 |
GWAS Ctlg | rs730880483 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730880483(A;A) |
Alt | rs730880483(A;A) |
Reference | Rs730880483(C;C) |
Significance | Pathogenic |
Disease | not provided Danon disease |
Variation | info |
Gene | LAMP2 |
CLNDBN | not provided Danon disease |
Reversed | 1 |
HGVS | NC_000023.10:g.119580229G>T |
CLNSRC | |
CLNACC | RCV000157969.2, RCV000208028.1, |