rs648202
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs648202(C;C) |
Make rs648202(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 33061326 |
Gene | KL |
is a | snp |
is | mentioned by |
dbSNP | rs648202 |
dbSNP (classic) | rs648202 |
ClinGen | rs648202 |
ebi | rs648202 |
HLI | rs648202 |
Exac | rs648202 |
Gnomad | rs648202 |
Varsome | rs648202 |
LitVar | rs648202 |
Map | rs648202 |
PheGenI | rs648202 |
Biobank | rs648202 |
1000 genomes | rs648202 |
hgdp | rs648202 |
ensembl | rs648202 |
geneview | rs648202 |
scholar | rs648202 |
rs648202 | |
pharmgkb | rs648202 |
gwascentral | rs648202 |
openSNP | rs648202 |
23andMe | rs648202 |
SNPshot | rs648202 |
SNPdbe | rs648202 |
MSV3d | rs648202 |
GWAS Ctlg | rs648202 |
GMAF | 0.27 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
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[PMID 20401335] Sickle Cell Disease in the Post Genomic Era: A Monogenic Disease with a Polygenic Phenotype.
ClinVar | |
---|---|
Risk | rs648202(C;C) |
Alt | rs648202(C;C) |
Reference | Rs648202(T;T) |
Significance | Non-pathogenic |
Disease | Tumoral calcinosis |
Variation | info |
Gene | KL |
CLNDBN | Tumoral calcinosis, familial, hyperphosphatemic |
Reversed | 0 |
HGVS | NC_000013.10:g.33635463T>C |
CLNSRC | |
CLNACC | RCV000294071.1, |