rs796065023
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TC;TC) | 0 | common in clinvar |
Make rs796065023(-;-) |
Make rs796065023(-;TC) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 8 |
Position | 143728537 |
Gene | FAM83H |
is a | snp |
is | mentioned by |
dbSNP | rs796065023 |
dbSNP (classic) | rs796065023 |
ClinGen | rs796065023 |
ebi | rs796065023 |
HLI | rs796065023 |
Exac | rs796065023 |
Gnomad | rs796065023 |
Varsome | rs796065023 |
LitVar | rs796065023 |
Map | rs796065023 |
PheGenI | rs796065023 |
Biobank | rs796065023 |
1000 genomes | rs796065023 |
hgdp | rs796065023 |
ensembl | rs796065023 |
geneview | rs796065023 |
scholar | rs796065023 |
rs796065023 | |
pharmgkb | rs796065023 |
gwascentral | rs796065023 |
openSNP | rs796065023 |
23andMe | rs796065023 |
SNPshot | rs796065023 |
SNPdbe | rs796065023 |
MSV3d | rs796065023 |
GWAS Ctlg | rs796065023 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796065023(-;-) |
Alt | rs796065023(-;-) |
Reference | Rs796065023(TC;TC) |
Significance | Pathogenic |
Disease | Amelogenesis imperfecta |
Variation | info |
Gene | FAM83H |
CLNDBN | Amelogenesis imperfecta, hypocalcification type |
Reversed | 1 |
HGVS | NC_000008.10:g.144810707_144810708delGA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000816.3, |