rs139620139
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs139620139(G;T) |
Make rs139620139(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 17 |
Position | 68537671 |
Gene | FAM20A, PRKAR1A |
is a | snp |
is | mentioned by |
dbSNP | rs139620139 |
dbSNP (classic) | rs139620139 |
ClinGen | rs139620139 |
ebi | rs139620139 |
HLI | rs139620139 |
Exac | rs139620139 |
Gnomad | rs139620139 |
Varsome | rs139620139 |
LitVar | rs139620139 |
Map | rs139620139 |
PheGenI | rs139620139 |
Biobank | rs139620139 |
1000 genomes | rs139620139 |
hgdp | rs139620139 |
ensembl | rs139620139 |
geneview | rs139620139 |
scholar | rs139620139 |
rs139620139 | |
pharmgkb | rs139620139 |
gwascentral | rs139620139 |
openSNP | rs139620139 |
23andMe | rs139620139 |
SNPshot | rs139620139 |
SNPdbe | rs139620139 |
MSV3d | rs139620139 |
GWAS Ctlg | rs139620139 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs139620139(A;A) rs139620139(C;C) rs139620139(T;T) |
Alt | rs139620139(A;A) rs139620139(C;C) rs139620139(T;T) |
Reference | Rs139620139(G;G) |
Significance | Pathogenic |
Disease | Enamel-renal syndrome |
Variation | info |
Gene | PRKAR1A FAM20A |
CLNDBN | Enamel-renal syndrome |
Reversed | 0 |
HGVS | NC_000017.10:g.66533812G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000128613.2, |