rs138498898
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs138498898(A;A) |
Make rs138498898(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 47974258 |
Gene | COL2A1 |
is a | snp |
is | mentioned by |
dbSNP | rs138498898 |
dbSNP (classic) | rs138498898 |
ClinGen | rs138498898 |
ebi | rs138498898 |
HLI | rs138498898 |
Exac | rs138498898 |
Gnomad | rs138498898 |
Varsome | rs138498898 |
LitVar | rs138498898 |
Map | rs138498898 |
PheGenI | rs138498898 |
Biobank | rs138498898 |
1000 genomes | rs138498898 |
hgdp | rs138498898 |
ensembl | rs138498898 |
geneview | rs138498898 |
scholar | rs138498898 |
rs138498898 | |
pharmgkb | rs138498898 |
gwascentral | rs138498898 |
openSNP | rs138498898 |
23andMe | rs138498898 |
SNPshot | rs138498898 |
SNPdbe | rs138498898 |
MSV3d | rs138498898 |
GWAS Ctlg | rs138498898 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs138498898(A;A) |
Alt | rs138498898(A;A) |
Reference | Rs138498898(G;G) |
Significance | Pathogenic |
Disease | Avascular necrosis of the head of femur |
Variation | info |
Gene | COL2A1 |
CLNDBN | Avascular necrosis of the head of femur |
Reversed | 0 |
HGVS | NC_000012.11:g.48368041G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000022484.28, |