rs606231293
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs606231293(-;GGAAAATACAGTCTCAGTTCACCGATGCCC) |
Make rs606231293(GGAAAATACAGTCTCAGTTCACCGATGCCC;GGAAAATACAGTCTCAGTTCACCGATGCCC) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 6 |
Position | 7571527 |
Gene | DSP |
is a | snp |
is | mentioned by |
dbSNP | rs606231293 |
dbSNP (classic) | rs606231293 |
ClinGen | rs606231293 |
ebi | rs606231293 |
HLI | rs606231293 |
Exac | rs606231293 |
Gnomad | rs606231293 |
Varsome | rs606231293 |
LitVar | rs606231293 |
Map | rs606231293 |
PheGenI | rs606231293 |
Biobank | rs606231293 |
1000 genomes | rs606231293 |
hgdp | rs606231293 |
ensembl | rs606231293 |
geneview | rs606231293 |
scholar | rs606231293 |
rs606231293 | |
pharmgkb | rs606231293 |
gwascentral | rs606231293 |
openSNP | rs606231293 |
23andMe | rs606231293 |
SNPshot | rs606231293 |
SNPdbe | rs606231293 |
MSV3d | rs606231293 |
GWAS Ctlg | rs606231293 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs606231293(CGGAAAATACAGTCTCAGTTCACCGATGCC;CGGAAAATACAGTCTCAGTTCACCGATGCC) |
Alt | rs606231293(CGGAAAATACAGTCTCAGTTCACCGATGCC;CGGAAAATACAGTCTCAGTTCACCGATGCC) |
Reference | Rs606231293(-;-) |
Significance | Pathogenic |
Disease | Cardiomyopathy |
Variation | info |
Gene | DSP |
CLNDBN | Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis |
Reversed | 0 |
HGVS | NC_000006.11:g.7571731_7571760dup30 |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000144959.3, |