rs397516988
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AGTG;AGTG) | 0 | common in clinvar |
Make rs397516988(-;-) |
Make rs397516988(-;AGTG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 32868920 |
Gene | PKP2 |
is a | snp |
is | mentioned by |
dbSNP | rs397516988 |
dbSNP (classic) | rs397516988 |
ClinGen | rs397516988 |
ebi | rs397516988 |
HLI | rs397516988 |
Exac | rs397516988 |
Gnomad | rs397516988 |
Varsome | rs397516988 |
LitVar | rs397516988 |
Map | rs397516988 |
PheGenI | rs397516988 |
Biobank | rs397516988 |
1000 genomes | rs397516988 |
hgdp | rs397516988 |
ensembl | rs397516988 |
geneview | rs397516988 |
scholar | rs397516988 |
rs397516988 | |
pharmgkb | rs397516988 |
gwascentral | rs397516988 |
openSNP | rs397516988 |
23andMe | rs397516988 |
SNPshot | rs397516988 |
SNPdbe | rs397516988 |
MSV3d | rs397516988 |
GWAS Ctlg | rs397516988 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397516988(-;-) |
Alt | rs397516988(-;-) |
Reference | Rs397516988(AGTG;AGTG) |
Significance | Probable-Pathogenic |
Disease | not specified not provided |
Variation | info |
Gene | PKP2 |
CLNDBN | not specified not provided |
Reversed | 1 |
HGVS | NC_000012.11:g.33021854_33021857delCACT |
CLNSRC | |
CLNACC | RCV000038151.2, RCV000183787.3, |