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rs104893722

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893722(A;A)
Make rs104893722(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position190404905
GeneCLDN16
is asnp
is mentioned by
dbSNPrs104893722
dbSNP (classic)rs104893722
ClinGenrs104893722
ebirs104893722
HLIrs104893722
Exacrs104893722
Gnomadrs104893722
Varsomers104893722
LitVarrs104893722
Maprs104893722
PheGenIrs104893722
Biobankrs104893722
1000 genomesrs104893722
hgdprs104893722
ensemblrs104893722
geneviewrs104893722
scholarrs104893722
googlers104893722
pharmgkbrs104893722
gwascentralrs104893722
openSNPrs104893722
23andMers104893722
SNPshotrs104893722
SNPdbers104893722
MSV3drs104893722
GWAS Ctlgrs104893722
Max Magnitude0
OMIM603959
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104893722(A;A)
Alt rs104893722(A;A)
Reference Rs104893722(G;G)
Significance Pathogenic
Disease Primary hypomagnesemia
Variation info
Gene CLDN16
CLNDBN Primary hypomagnesemia
Reversed 0
HGVS NC_000003.11:g.190122694G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006290.3,