rs28939080
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs28939080(A;A) |
Make rs28939080(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 14713644 |
Gene | ANKH, LOC100130744, OTULIN |
is a | snp |
is | mentioned by |
dbSNP | rs28939080 |
dbSNP (classic) | rs28939080 |
ClinGen | rs28939080 |
ebi | rs28939080 |
HLI | rs28939080 |
Exac | rs28939080 |
Gnomad | rs28939080 |
Varsome | rs28939080 |
LitVar | rs28939080 |
Map | rs28939080 |
PheGenI | rs28939080 |
Biobank | rs28939080 |
1000 genomes | rs28939080 |
hgdp | rs28939080 |
ensembl | rs28939080 |
geneview | rs28939080 |
scholar | rs28939080 |
rs28939080 | |
pharmgkb | rs28939080 |
gwascentral | rs28939080 |
openSNP | rs28939080 |
23andMe | rs28939080 |
SNPshot | rs28939080 |
SNPdbe | rs28939080 |
MSV3d | rs28939080 |
GWAS Ctlg | rs28939080 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28939080(A;A) |
Alt | rs28939080(A;A) |
Reference | Rs28939080(G;G) |
Significance | Pathogenic |
Disease | Craniometaphyseal dysplasia Chondrocalcinosis 2 |
Variation | info |
Gene | LOC100130744 ANKH |
CLNDBN | Craniometaphyseal dysplasia, autosomal dominant Chondrocalcinosis 2 |
Reversed | 1 |
HGVS | NC_000005.9:g.14713753C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000005502.2, RCV000032998.2, |