rs727504509
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs727504509(C;T) |
Make rs727504509(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 32796114 |
Gene | PKP2 |
is a | snp |
is | mentioned by |
dbSNP | rs727504509 |
dbSNP (classic) | rs727504509 |
ClinGen | rs727504509 |
ebi | rs727504509 |
HLI | rs727504509 |
Exac | rs727504509 |
Gnomad | rs727504509 |
Varsome | rs727504509 |
LitVar | rs727504509 |
Map | rs727504509 |
PheGenI | rs727504509 |
Biobank | rs727504509 |
1000 genomes | rs727504509 |
hgdp | rs727504509 |
ensembl | rs727504509 |
geneview | rs727504509 |
scholar | rs727504509 |
rs727504509 | |
pharmgkb | rs727504509 |
gwascentral | rs727504509 |
openSNP | rs727504509 |
23andMe | rs727504509 |
SNPshot | rs727504509 |
SNPdbe | rs727504509 |
MSV3d | rs727504509 |
GWAS Ctlg | rs727504509 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727504509(T;T) |
Alt | rs727504509(T;T) |
Reference | Rs727504509(C;C) |
Significance | Probable-Pathogenic |
Disease | not specified not provided |
Variation | info |
Gene | PKP2 |
CLNDBN | not specified not provided |
Reversed | 1 |
HGVS | NC_000012.11:g.32949048G>A |
CLNSRC | |
CLNACC | RCV000155651.2, RCV000183713.2, |