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rs104893730

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104893730(G;G)
Make rs104893730(G;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position190404786
GeneCLDN16
is asnp
is mentioned by
dbSNPrs104893730
dbSNP (classic)rs104893730
ClinGenrs104893730
ebirs104893730
HLIrs104893730
Exacrs104893730
Gnomadrs104893730
Varsomers104893730
LitVarrs104893730
Maprs104893730
PheGenIrs104893730
Biobankrs104893730
1000 genomesrs104893730
hgdprs104893730
ensemblrs104893730
geneviewrs104893730
scholarrs104893730
googlers104893730
pharmgkbrs104893730
gwascentralrs104893730
openSNPrs104893730
23andMers104893730
SNPshotrs104893730
SNPdbers104893730
MSV3drs104893730
GWAS Ctlgrs104893730
Max Magnitude0
OMIM603959
Desc
Variant0011
Relatedalso
ClinVar
Risk rs104893730(G;G)
Alt rs104893730(G;G)
Reference Rs104893730(T;T)
Significance Pathogenic
Disease Primary hypomagnesemia
Variation info
Gene CLDN16
CLNDBN Primary hypomagnesemia
Reversed 0
HGVS NC_000003.11:g.190122575T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006298.3,