rs727504557
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs727504557(-;-) |
Make rs727504557(-;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 120441824 |
Gene | LAMP2 |
is a | snp |
is | mentioned by |
dbSNP | rs727504557 |
dbSNP (classic) | rs727504557 |
ClinGen | rs727504557 |
ebi | rs727504557 |
HLI | rs727504557 |
Exac | rs727504557 |
Gnomad | rs727504557 |
Varsome | rs727504557 |
LitVar | rs727504557 |
Map | rs727504557 |
PheGenI | rs727504557 |
Biobank | rs727504557 |
1000 genomes | rs727504557 |
hgdp | rs727504557 |
ensembl | rs727504557 |
geneview | rs727504557 |
scholar | rs727504557 |
rs727504557 | |
pharmgkb | rs727504557 |
gwascentral | rs727504557 |
openSNP | rs727504557 |
23andMe | rs727504557 |
SNPshot | rs727504557 |
SNPdbe | rs727504557 |
MSV3d | rs727504557 |
GWAS Ctlg | rs727504557 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727504557(-;-) |
Alt | rs727504557(-;-) |
Reference | Rs727504557(A;A) |
Significance | Probable-Pathogenic |
Disease | Danon disease |
Variation | info |
Gene | LAMP2 |
CLNDBN | Danon disease |
Reversed | 1 |
HGVS | NC_000023.10:g.119575679delT |
CLNSRC | |
CLNACC | RCV000155721.1, |