rs387906695
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs387906695(C;C) |
Make rs387906695(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 68530283 |
Gene | PRKAR1A |
is a | snp |
is | mentioned by |
dbSNP | rs387906695 |
dbSNP (classic) | rs387906695 |
ClinGen | rs387906695 |
ebi | rs387906695 |
HLI | rs387906695 |
Exac | rs387906695 |
Gnomad | rs387906695 |
Varsome | rs387906695 |
LitVar | rs387906695 |
Map | rs387906695 |
PheGenI | rs387906695 |
Biobank | rs387906695 |
1000 genomes | rs387906695 |
hgdp | rs387906695 |
ensembl | rs387906695 |
geneview | rs387906695 |
scholar | rs387906695 |
rs387906695 | |
pharmgkb | rs387906695 |
gwascentral | rs387906695 |
openSNP | rs387906695 |
23andMe | rs387906695 |
SNPshot | rs387906695 |
SNPdbe | rs387906695 |
MSV3d | rs387906695 |
GWAS Ctlg | rs387906695 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906695(C;C) |
Alt | rs387906695(C;C) |
Reference | Rs387906695(T;T) |
Significance | Pathogenic |
Disease | Acrodysostosis 1 with or without hormone resistance |
Variation | info |
Gene | PRKAR1A |
CLNDBN | Acrodysostosis 1 with or without hormone resistance |
Reversed | 0 |
HGVS | NC_000017.10:g.66526424T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000022794.23, |