rs143397927
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs143397927(A;G) |
Make rs143397927(G;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 12 |
Position | 32850852 |
Gene | PKP2 |
is a | snp |
is | mentioned by |
dbSNP | rs143397927 |
dbSNP (classic) | rs143397927 |
ClinGen | rs143397927 |
ebi | rs143397927 |
HLI | rs143397927 |
Exac | rs143397927 |
Gnomad | rs143397927 |
Varsome | rs143397927 |
LitVar | rs143397927 |
Map | rs143397927 |
PheGenI | rs143397927 |
Biobank | rs143397927 |
1000 genomes | rs143397927 |
hgdp | rs143397927 |
ensembl | rs143397927 |
geneview | rs143397927 |
scholar | rs143397927 |
rs143397927 | |
pharmgkb | rs143397927 |
gwascentral | rs143397927 |
openSNP | rs143397927 |
23andMe | rs143397927 |
SNPshot | rs143397927 |
SNPdbe | rs143397927 |
MSV3d | rs143397927 |
GWAS Ctlg | rs143397927 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs143397927(G;G) rs143397927(T;T) |
Alt | rs143397927(G;G) rs143397927(T;T) |
Reference | Rs143397927(A;A) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | PKP2 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000012.11:g.33003786A>T |
CLNSRC | |
CLNACC | RCV000254703.2, |