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rs121908543

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908543(G;G)
Make rs121908543(G;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position190409949
GeneCLDN16
is asnp
is mentioned by
dbSNPrs121908543
dbSNP (classic)rs121908543
ClinGenrs121908543
ebirs121908543
HLIrs121908543
Exacrs121908543
Gnomadrs121908543
Varsomers121908543
LitVarrs121908543
Maprs121908543
PheGenIrs121908543
Biobankrs121908543
1000 genomesrs121908543
hgdprs121908543
ensemblrs121908543
geneviewrs121908543
scholarrs121908543
googlers121908543
pharmgkbrs121908543
gwascentralrs121908543
openSNPrs121908543
23andMers121908543
SNPshotrs121908543
SNPdbers121908543
MSV3drs121908543
GWAS Ctlgrs121908543
Max Magnitude0
OMIM603959
Desc
Variant0016
Relatedalso
ClinVar
Risk rs121908543(G;G)
Alt rs121908543(G;G)
Reference Rs121908543(T;T)
Significance Pathogenic
Disease Primary hypomagnesemia
Variation info
Gene CLDN16
CLNDBN Primary hypomagnesemia
Reversed 0
HGVS NC_000003.11:g.190127738T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000006303.3,