rs587776913
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GAGCC;GAGCC) | 0 | common in clinvar |
(GGCTC;GGCTC) | 0 | common in clinvar |
(GGCTCC;GGCTCC) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs587776913(-;-) |
Make rs587776913(-;GAGCC) |
Reference | GRCh38 38.1/142 |
Chromosome | 17 |
Position | 68540889 |
Gene | FAM20A, PRKAR1A |
is a | snp |
is | mentioned by |
dbSNP | rs587776913 |
dbSNP (classic) | rs587776913 |
ClinGen | rs587776913 |
ebi | rs587776913 |
HLI | rs587776913 |
Exac | rs587776913 |
Gnomad | rs587776913 |
Varsome | rs587776913 |
LitVar | rs587776913 |
Map | rs587776913 |
PheGenI | rs587776913 |
Biobank | rs587776913 |
1000 genomes | rs587776913 |
hgdp | rs587776913 |
ensembl | rs587776913 |
geneview | rs587776913 |
scholar | rs587776913 |
rs587776913 | |
pharmgkb | rs587776913 |
gwascentral | rs587776913 |
openSNP | rs587776913 |
23andMe | rs587776913 |
SNPshot | rs587776913 |
SNPdbe | rs587776913 |
MSV3d | rs587776913 |
GWAS Ctlg | rs587776913 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs587776913(GAGCC;GAGCC) rs587776913(-;-) |
Alt | Rs587776913(GAGCC;GAGCC) rs587776913(-;-) |
Reference | Rs587776913(GGCTC;GGCTC) |
Significance | Pathogenic |
Disease | Enamel-renal syndrome |
Variation | info |
Gene | PRKAR1A FAM20A |
CLNDBN | Enamel-renal syndrome |
Reversed | 1 |
HGVS | NC_000017.10:g.66537030_66537034delGAGCC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000029152.3, |