rs281864800
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GCACTTTA;GCACTTTA) | 0 | common in clinvar |
Make rs281864800(-;-) |
Make rs281864800(-;GCACTTTA) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 68525745 |
Gene | PRKAR1A |
is a | snp |
is | mentioned by |
dbSNP | rs281864800 |
dbSNP (classic) | rs281864800 |
ClinGen | rs281864800 |
ebi | rs281864800 |
HLI | rs281864800 |
Exac | rs281864800 |
Gnomad | rs281864800 |
Varsome | rs281864800 |
LitVar | rs281864800 |
Map | rs281864800 |
PheGenI | rs281864800 |
Biobank | rs281864800 |
1000 genomes | rs281864800 |
hgdp | rs281864800 |
ensembl | rs281864800 |
geneview | rs281864800 |
scholar | rs281864800 |
rs281864800 | |
pharmgkb | rs281864800 |
gwascentral | rs281864800 |
openSNP | rs281864800 |
23andMe | rs281864800 |
SNPshot | rs281864800 |
SNPdbe | rs281864800 |
MSV3d | rs281864800 |
GWAS Ctlg | rs281864800 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs281864800(-;-) |
Alt | rs281864800(-;-) |
Reference | Rs281864800(GCACTTTA;GCACTTTA) |
Significance | Pathogenic |
Disease | Carney complex |
Variation | info |
Gene | PRKAR1A |
CLNDBN | Carney complex, type 1 |
Reversed | 0 |
HGVS | NC_000017.10:g.66521886_66521893delGCACTTTA |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000034290.2, |