rs202115331
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs202115331(C;C) |
Make rs202115331(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 3414616 |
Gene | PRDM16 |
is a | snp |
is | mentioned by |
dbSNP | rs202115331 |
dbSNP (classic) | rs202115331 |
ClinGen | rs202115331 |
ebi | rs202115331 |
HLI | rs202115331 |
Exac | rs202115331 |
Gnomad | rs202115331 |
Varsome | rs202115331 |
LitVar | rs202115331 |
Map | rs202115331 |
PheGenI | rs202115331 |
Biobank | rs202115331 |
1000 genomes | rs202115331 |
hgdp | rs202115331 |
ensembl | rs202115331 |
geneview | rs202115331 |
scholar | rs202115331 |
rs202115331 | |
pharmgkb | rs202115331 |
gwascentral | rs202115331 |
openSNP | rs202115331 |
23andMe | rs202115331 |
SNPshot | rs202115331 |
SNPdbe | rs202115331 |
MSV3d | rs202115331 |
GWAS Ctlg | rs202115331 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs202115331(C;C) |
Alt | rs202115331(C;C) |
Reference | Rs202115331(T;T) |
Significance | Pathogenic |
Disease | Dilated cardiomyopathy 1LL |
Variation | info |
Gene | PRDM16 |
CLNDBN | Dilated cardiomyopathy 1LL |
Reversed | 0 |
HGVS | NC_000001.10:g.3331180T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000054523.3, |