rs144411158
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs144411158(A;A) |
Make rs144411158(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 68555742 |
Gene | FAM20A |
is a | snp |
is | mentioned by |
dbSNP | rs144411158 |
dbSNP (classic) | rs144411158 |
ClinGen | rs144411158 |
ebi | rs144411158 |
HLI | rs144411158 |
Exac | rs144411158 |
Gnomad | rs144411158 |
Varsome | rs144411158 |
LitVar | rs144411158 |
Map | rs144411158 |
PheGenI | rs144411158 |
Biobank | rs144411158 |
1000 genomes | rs144411158 |
hgdp | rs144411158 |
ensembl | rs144411158 |
geneview | rs144411158 |
scholar | rs144411158 |
rs144411158 | |
pharmgkb | rs144411158 |
gwascentral | rs144411158 |
openSNP | rs144411158 |
23andMe | rs144411158 |
SNPshot | rs144411158 |
SNPdbe | rs144411158 |
MSV3d | rs144411158 |
GWAS Ctlg | rs144411158 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs144411158(A;A) |
Alt | rs144411158(A;A) |
Reference | Rs144411158(G;G) |
Significance | Pathogenic |
Disease | Enamel-renal syndrome |
Variation | info |
Gene | FAM20A |
CLNDBN | Enamel-renal syndrome |
Reversed | 0 |
HGVS | NC_000017.10:g.66551883G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000023864.5, |