rs587777530
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(T;T) | 0 | common in clinvar |
Make rs587777530(C;C) |
Make rs587777530(C;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 17 |
Position | 68543723 |
Gene | FAM20A, PRKAR1A |
is a | snp |
is | mentioned by |
dbSNP | rs587777530 |
dbSNP (classic) | rs587777530 |
ClinGen | rs587777530 |
ebi | rs587777530 |
HLI | rs587777530 |
Exac | rs587777530 |
Gnomad | rs587777530 |
Varsome | rs587777530 |
LitVar | rs587777530 |
Map | rs587777530 |
PheGenI | rs587777530 |
Biobank | rs587777530 |
1000 genomes | rs587777530 |
hgdp | rs587777530 |
ensembl | rs587777530 |
geneview | rs587777530 |
scholar | rs587777530 |
rs587777530 | |
pharmgkb | rs587777530 |
gwascentral | rs587777530 |
openSNP | rs587777530 |
23andMe | rs587777530 |
SNPshot | rs587777530 |
SNPdbe | rs587777530 |
MSV3d | rs587777530 |
GWAS Ctlg | rs587777530 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777530(C;C) Rs587777530(T;T) |
Alt | rs587777530(C;C) Rs587777530(T;T) |
Reference | Rs587777530(A;A) |
Significance | Pathogenic |
Disease | Enamel-renal syndrome |
Variation | info |
Gene | PRKAR1A FAM20A |
CLNDBN | Enamel-renal syndrome |
Reversed | 1 |
HGVS | NC_000017.10:g.66539864T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000128612.2, |