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rs121908423

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121908423(A;G)
Make rs121908423(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position33017018
GeneKL
is asnp
is mentioned by
dbSNPrs121908423
dbSNP (classic)rs121908423
ClinGenrs121908423
ebirs121908423
HLIrs121908423
Exacrs121908423
Gnomadrs121908423
Varsomers121908423
LitVarrs121908423
Maprs121908423
PheGenIrs121908423
Biobankrs121908423
1000 genomesrs121908423
hgdprs121908423
ensemblrs121908423
geneviewrs121908423
scholarrs121908423
googlers121908423
pharmgkbrs121908423
gwascentralrs121908423
openSNPrs121908423
23andMers121908423
SNPshotrs121908423
SNPdbers121908423
MSV3drs121908423
GWAS Ctlgrs121908423
Max Magnitude0
OMIM604824
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121908423(G;G)
Alt rs121908423(G;G)
Reference Rs121908423(A;A)
Significance Pathogenic
Disease Tumoral calcinosis
Variation info
Gene LOC101927403 KL
CLNDBN Tumoral calcinosis, hyperphosphatemic
Reversed 0
HGVS NC_000013.10:g.33591156A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005675.3,