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rs648202

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs648202(C;C)
Make rs648202(C;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position33061326
GeneKL
is asnp
is mentioned by
dbSNPrs648202
dbSNP (old)rs648202
ClinGenrs648202
ebirs648202
HLIrs648202
Exacrs648202
Gnomadrs648202
Varsomers648202
Maprs648202
PheGenIrs648202
Biobankrs648202
1000 genomesrs648202
hgdprs648202
ensemblrs648202
gopubmedrs648202
geneviewrs648202
scholarrs648202
googlers648202
pharmgkbrs648202
gwascentralrs648202
openSNPrs648202
23andMers648202
23andMe allrs648202
SNP Nexus

SNPshotrs648202
SNPdbers648202
MSV3drs648202
GWAS Ctlgrs648202
GMAF0.27
Max Magnitude0
? (C;C) (C;T) (T;T) 28
[PMID 20394945] Infantile hypercalcemia and hypercalciuria: new insights into a vitamin D-dependent mechanism and response to ketoconazole treatment


[PMID 20401335OA-icon.png] 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,