rs137854435
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs137854435(C;T) |
Make rs137854435(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 143728488 |
Gene | FAM83H |
is a | snp |
is | mentioned by |
dbSNP | rs137854435 |
dbSNP (classic) | rs137854435 |
ClinGen | rs137854435 |
ebi | rs137854435 |
HLI | rs137854435 |
Exac | rs137854435 |
Gnomad | rs137854435 |
Varsome | rs137854435 |
LitVar | rs137854435 |
Map | rs137854435 |
PheGenI | rs137854435 |
Biobank | rs137854435 |
1000 genomes | rs137854435 |
hgdp | rs137854435 |
ensembl | rs137854435 |
geneview | rs137854435 |
scholar | rs137854435 |
rs137854435 | |
pharmgkb | rs137854435 |
gwascentral | rs137854435 |
openSNP | rs137854435 |
23andMe | rs137854435 |
SNPshot | rs137854435 |
SNPdbe | rs137854435 |
MSV3d | rs137854435 |
GWAS Ctlg | rs137854435 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137854435(T;T) |
Alt | rs137854435(T;T) |
Reference | Rs137854435(C;C) |
Significance | Pathogenic |
Disease | Amelogenesis imperfecta |
Variation | info |
Gene | FAM83H |
CLNDBN | Amelogenesis imperfecta, hypocalcification type |
Reversed | 1 |
HGVS | NC_000008.10:g.144810658G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000806.3, |