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rs121908542

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908542(C;G)
Make rs121908542(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position190410026
GeneCLDN16
is asnp
is mentioned by
dbSNPrs121908542
dbSNP (classic)rs121908542
ClinGenrs121908542
ebirs121908542
HLIrs121908542
Exacrs121908542
Gnomadrs121908542
Varsomers121908542
LitVarrs121908542
Maprs121908542
PheGenIrs121908542
Biobankrs121908542
1000 genomesrs121908542
hgdprs121908542
ensemblrs121908542
geneviewrs121908542
scholarrs121908542
googlers121908542
pharmgkbrs121908542
gwascentralrs121908542
openSNPrs121908542
23andMers121908542
SNPshotrs121908542
SNPdbers121908542
MSV3drs121908542
GWAS Ctlgrs121908542
Max Magnitude0
OMIM603959
Desc
Variant0015
Relatedalso
ClinVar
Risk rs121908542(G;G)
Alt rs121908542(G;G)
Reference Rs121908542(C;C)
Significance Pathogenic
Disease Hypercalciuria
Variation info
Gene CLDN16
CLNDBN Hypercalciuria, childhood, self-limiting
Reversed 0
HGVS NC_000003.11:g.190127815C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000006302.2,