rs672601329
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs672601329(-;T) |
Make rs672601329(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 6 |
Position | 70281387 |
Gene | COL9A1 |
is a | snp |
is | mentioned by |
dbSNP | rs672601329 |
dbSNP (classic) | rs672601329 |
ClinGen | rs672601329 |
ebi | rs672601329 |
HLI | rs672601329 |
Exac | rs672601329 |
Gnomad | rs672601329 |
Varsome | rs672601329 |
LitVar | rs672601329 |
Map | rs672601329 |
PheGenI | rs672601329 |
Biobank | rs672601329 |
1000 genomes | rs672601329 |
hgdp | rs672601329 |
ensembl | rs672601329 |
geneview | rs672601329 |
scholar | rs672601329 |
rs672601329 | |
pharmgkb | rs672601329 |
gwascentral | rs672601329 |
openSNP | rs672601329 |
23andMe | rs672601329 |
SNPshot | rs672601329 |
SNPdbe | rs672601329 |
MSV3d | rs672601329 |
GWAS Ctlg | rs672601329 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs672601329(T;T) |
Alt | rs672601329(T;T) |
Reference | Rs672601329(-;-) |
Significance | Pathogenic |
Disease | Multiple epiphyseal dysplasia 6 not specified |
Variation | info |
Gene | COL9A1 |
CLNDBN | Multiple epiphyseal dysplasia 6 not specified |
Reversed | 1 |
HGVS | NC_000006.11:g.70991091dupA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000018734.28, RCV000479843.1, |