rs397514546
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs397514546(-;-) |
Make rs397514546(-;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 63781128 |
Gene | TMEM5 |
is a | snp |
is | mentioned by |
dbSNP | rs397514546 |
dbSNP (classic) | rs397514546 |
ClinGen | rs397514546 |
ebi | rs397514546 |
HLI | rs397514546 |
Exac | rs397514546 |
Gnomad | rs397514546 |
Varsome | rs397514546 |
LitVar | rs397514546 |
Map | rs397514546 |
PheGenI | rs397514546 |
Biobank | rs397514546 |
1000 genomes | rs397514546 |
hgdp | rs397514546 |
ensembl | rs397514546 |
geneview | rs397514546 |
scholar | rs397514546 |
rs397514546 | |
pharmgkb | rs397514546 |
gwascentral | rs397514546 |
openSNP | rs397514546 |
23andMe | rs397514546 |
SNPshot | rs397514546 |
SNPdbe | rs397514546 |
MSV3d | rs397514546 |
GWAS Ctlg | rs397514546 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397514546(-;-) |
Alt | rs397514546(-;-) |
Reference | Rs397514546(A;A) |
Significance | Pathogenic |
Disease | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
Variation | info |
Gene | TMEM5 |
CLNDBN | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 |
Reversed | 0 |
HGVS | NC_000012.11:g.64174908delA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000032807.4, |