rs587776587
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs587776587(A;A) |
Make rs587776587(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 4 |
Position | 70635895 |
Gene | ENAM |
is a | snp |
is | mentioned by |
dbSNP | rs587776587 |
dbSNP (classic) | rs587776587 |
ClinGen | rs587776587 |
ebi | rs587776587 |
HLI | rs587776587 |
Exac | rs587776587 |
Gnomad | rs587776587 |
Varsome | rs587776587 |
LitVar | rs587776587 |
Map | rs587776587 |
PheGenI | rs587776587 |
Biobank | rs587776587 |
1000 genomes | rs587776587 |
hgdp | rs587776587 |
ensembl | rs587776587 |
geneview | rs587776587 |
scholar | rs587776587 |
rs587776587 | |
pharmgkb | rs587776587 |
gwascentral | rs587776587 |
openSNP | rs587776587 |
23andMe | rs587776587 |
SNPshot | rs587776587 |
SNPdbe | rs587776587 |
MSV3d | rs587776587 |
GWAS Ctlg | rs587776587 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776587(A;A) |
Alt | rs587776587(A;A) |
Reference | Rs587776587(G;G) |
Significance | Pathogenic |
Disease | Amelogenesis imperfecta - hypoplastic autosomal dominant - local |
Variation | info |
Gene | ENAM |
CLNDBN | Amelogenesis imperfecta - hypoplastic autosomal dominant - local |
Reversed | 0 |
HGVS | NC_000004.11:g.71501612G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000004458.3, |