rs875989819
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs875989819(A;A) |
Make rs875989819(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 6 |
Position | 75113601 |
Gene | COL12A1 |
is a | snp |
is | mentioned by |
dbSNP | rs875989819 |
dbSNP (classic) | rs875989819 |
ClinGen | rs875989819 |
ebi | rs875989819 |
HLI | rs875989819 |
Exac | rs875989819 |
Gnomad | rs875989819 |
Varsome | rs875989819 |
LitVar | rs875989819 |
Map | rs875989819 |
PheGenI | rs875989819 |
Biobank | rs875989819 |
1000 genomes | rs875989819 |
hgdp | rs875989819 |
ensembl | rs875989819 |
geneview | rs875989819 |
scholar | rs875989819 |
rs875989819 | |
pharmgkb | rs875989819 |
gwascentral | rs875989819 |
openSNP | rs875989819 |
23andMe | rs875989819 |
SNPshot | rs875989819 |
SNPdbe | rs875989819 |
MSV3d | rs875989819 |
GWAS Ctlg | rs875989819 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs875989819(A;A) |
Alt | rs875989819(A;A) |
Reference | Rs875989819(G;G) |
Significance | Pathogenic |
Disease | Ullrich congenital muscular dystrophy 2 |
Variation | info |
Gene | COL12A1 |
CLNDBN | Ullrich congenital muscular dystrophy 2 |
Reversed | 1 |
HGVS | NC_000006.11:g.75823317C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000186498.2, |