rs140213840
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs140213840(A;A) |
Make rs140213840(A;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 102594759 |
Gene | MMP20 |
is a | snp |
is | mentioned by |
dbSNP | rs140213840 |
dbSNP (classic) | rs140213840 |
ClinGen | rs140213840 |
ebi | rs140213840 |
HLI | rs140213840 |
Exac | rs140213840 |
Gnomad | rs140213840 |
Varsome | rs140213840 |
LitVar | rs140213840 |
Map | rs140213840 |
PheGenI | rs140213840 |
Biobank | rs140213840 |
1000 genomes | rs140213840 |
hgdp | rs140213840 |
ensembl | rs140213840 |
geneview | rs140213840 |
scholar | rs140213840 |
rs140213840 | |
pharmgkb | rs140213840 |
gwascentral | rs140213840 |
openSNP | rs140213840 |
23andMe | rs140213840 |
SNPshot | rs140213840 |
SNPdbe | rs140213840 |
MSV3d | rs140213840 |
GWAS Ctlg | rs140213840 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs140213840(A;A) |
Alt | rs140213840(A;A) |
Reference | Rs140213840(T;T) |
Significance | Pathogenic |
Disease | Amelogenesis imperfecta |
Variation | info |
Gene | MMP20 |
CLNDBN | Amelogenesis imperfecta, hypomaturation type, IIA2 |
Reversed | 0 |
HGVS | NC_000011.9:g.102465490T>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005761.4, |