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rs104893726

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104893726(G;G)
Make rs104893726(G;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position190408416
GeneCLDN16
is asnp
is mentioned by
dbSNPrs104893726
dbSNP (classic)rs104893726
ClinGenrs104893726
ebirs104893726
HLIrs104893726
Exacrs104893726
Gnomadrs104893726
Varsomers104893726
LitVarrs104893726
Maprs104893726
PheGenIrs104893726
Biobankrs104893726
1000 genomesrs104893726
hgdprs104893726
ensemblrs104893726
geneviewrs104893726
scholarrs104893726
googlers104893726
pharmgkbrs104893726
gwascentralrs104893726
openSNPrs104893726
23andMers104893726
SNPshotrs104893726
SNPdbers104893726
MSV3drs104893726
GWAS Ctlgrs104893726
Max Magnitude0
OMIM603959
Desc
Variant0007
Relatedalso
ClinVar
Risk rs104893726(G;G)
Alt rs104893726(G;G)
Reference Rs104893726(T;T)
Significance Pathogenic
Disease Primary hypomagnesemia
Variation info
Gene CLDN16
CLNDBN Primary hypomagnesemia
Reversed 0
HGVS NC_000003.11:g.190126205T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006294.3,