rs786204825
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs786204825(-;-) |
Make rs786204825(-;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 19 |
Position | 50908809 |
Gene | KLK4 |
is a | snp |
is | mentioned by |
dbSNP | rs786204825 |
dbSNP (classic) | rs786204825 |
ClinGen | rs786204825 |
ebi | rs786204825 |
HLI | rs786204825 |
Exac | rs786204825 |
Gnomad | rs786204825 |
Varsome | rs786204825 |
LitVar | rs786204825 |
Map | rs786204825 |
PheGenI | rs786204825 |
Biobank | rs786204825 |
1000 genomes | rs786204825 |
hgdp | rs786204825 |
ensembl | rs786204825 |
geneview | rs786204825 |
scholar | rs786204825 |
rs786204825 | |
pharmgkb | rs786204825 |
gwascentral | rs786204825 |
openSNP | rs786204825 |
23andMe | rs786204825 |
SNPshot | rs786204825 |
SNPdbe | rs786204825 |
MSV3d | rs786204825 |
GWAS Ctlg | rs786204825 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786204825(-;-) |
Alt | rs786204825(-;-) |
Reference | Rs786204825(G;G) |
Significance | Pathogenic |
Disease | Amelogenesis imperfecta |
Variation | info |
Gene | KLK4 |
CLNDBN | Amelogenesis imperfecta, hypomaturation type, IIA1 |
Reversed | 1 |
HGVS | NC_000019.9:g.51412065delC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000169728.3, |