rs730880322
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs730880322(A;A) |
Make rs730880322(A;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 12 |
Position | 14884220 |
Gene | MGP |
is a | snp |
is | mentioned by |
dbSNP | rs730880322 |
dbSNP (classic) | rs730880322 |
ClinGen | rs730880322 |
ebi | rs730880322 |
HLI | rs730880322 |
Exac | rs730880322 |
Gnomad | rs730880322 |
Varsome | rs730880322 |
LitVar | rs730880322 |
Map | rs730880322 |
PheGenI | rs730880322 |
Biobank | rs730880322 |
1000 genomes | rs730880322 |
hgdp | rs730880322 |
ensembl | rs730880322 |
geneview | rs730880322 |
scholar | rs730880322 |
rs730880322 | |
pharmgkb | rs730880322 |
gwascentral | rs730880322 |
openSNP | rs730880322 |
23andMe | rs730880322 |
SNPshot | rs730880322 |
SNPdbe | rs730880322 |
MSV3d | rs730880322 |
GWAS Ctlg | rs730880322 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730880322(A;A) rs730880322(C;C) |
Alt | rs730880322(A;A) rs730880322(C;C) |
Reference | Rs730880322(T;T) |
Significance | Pathogenic |
Disease | Keutel syndrome |
Variation | info |
Gene | MGP |
CLNDBN | Keutel syndrome |
Reversed | 1 |
HGVS | NC_000012.11:g.15037154A>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000015417.22, |