rs773317399
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs773317399(A;A) |
Make rs773317399(A;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 17 |
Position | 39666015 |
Gene | PNMT, TCAP |
is a | snp |
is | mentioned by |
dbSNP | rs773317399 |
dbSNP (classic) | rs773317399 |
ClinGen | rs773317399 |
ebi | rs773317399 |
HLI | rs773317399 |
Exac | rs773317399 |
Gnomad | rs773317399 |
Varsome | rs773317399 |
LitVar | rs773317399 |
Map | rs773317399 |
PheGenI | rs773317399 |
Biobank | rs773317399 |
1000 genomes | rs773317399 |
hgdp | rs773317399 |
ensembl | rs773317399 |
geneview | rs773317399 |
scholar | rs773317399 |
rs773317399 | |
pharmgkb | rs773317399 |
gwascentral | rs773317399 |
openSNP | rs773317399 |
23andMe | rs773317399 |
SNPshot | rs773317399 |
SNPdbe | rs773317399 |
MSV3d | rs773317399 |
GWAS Ctlg | rs773317399 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs773317399(A;A) rs773317399(T;T) |
Alt | rs773317399(A;A) rs773317399(T;T) |
Reference | Rs773317399(C;C) |
Significance | Pathogenic |
Disease | Dilated cardiomyopathy 1N |
Variation | info |
Gene | TCAP PNMT |
CLNDBN | Dilated cardiomyopathy 1N |
Reversed | 0 |
HGVS | NC_000017.10:g.37822268C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000170301.4, |