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rs104893731

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104893731(C;C)
Make rs104893731(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position190404768
GeneCLDN16
is asnp
is mentioned by
dbSNPrs104893731
dbSNP (classic)rs104893731
ClinGenrs104893731
ebirs104893731
HLIrs104893731
Exacrs104893731
Gnomadrs104893731
Varsomers104893731
LitVarrs104893731
Maprs104893731
PheGenIrs104893731
Biobankrs104893731
1000 genomesrs104893731
hgdprs104893731
ensemblrs104893731
geneviewrs104893731
scholarrs104893731
googlers104893731
pharmgkbrs104893731
gwascentralrs104893731
openSNPrs104893731
23andMers104893731
SNPshotrs104893731
SNPdbers104893731
MSV3drs104893731
GWAS Ctlgrs104893731
Max Magnitude0
OMIM603959
Desc
Variant0012
Relatedalso
ClinVar
Risk rs104893731(C;C)
Alt rs104893731(C;C)
Reference Rs104893731(T;T)
Significance Pathogenic
Disease Primary hypomagnesemia
Variation info
Gene CLDN16
CLNDBN Primary hypomagnesemia
Reversed 0
HGVS NC_000003.11:g.190122557T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006299.3,