rs587777515
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(T;T) | 0 | common in clinvar |
Make rs587777515(A;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 102609070 |
Gene | LOC101928477, MMP20 |
is a | snp |
is | mentioned by |
dbSNP | rs587777515 |
dbSNP (classic) | rs587777515 |
ClinGen | rs587777515 |
ebi | rs587777515 |
HLI | rs587777515 |
Exac | rs587777515 |
Gnomad | rs587777515 |
Varsome | rs587777515 |
LitVar | rs587777515 |
Map | rs587777515 |
PheGenI | rs587777515 |
Biobank | rs587777515 |
1000 genomes | rs587777515 |
hgdp | rs587777515 |
ensembl | rs587777515 |
geneview | rs587777515 |
scholar | rs587777515 |
rs587777515 | |
pharmgkb | rs587777515 |
gwascentral | rs587777515 |
openSNP | rs587777515 |
23andMe | rs587777515 |
SNPshot | rs587777515 |
SNPdbe | rs587777515 |
MSV3d | rs587777515 |
GWAS Ctlg | rs587777515 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs587777515(A;A) |
Alt | Rs587777515(A;A) |
Reference | Rs587777515(T;T) |
Significance | Pathogenic |
Disease | Amelogenesis imperfecta |
Variation | info |
Gene | MMP20 |
CLNDBN | Amelogenesis imperfecta, hypomaturation type, IIA2 |
Reversed | 1 |
HGVS | NC_000011.9:g.102479801A>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000128567.3, |