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rs104893725

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104893725(C;C)
Make rs104893725(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position190404834
GeneCLDN16
is asnp
is mentioned by
dbSNPrs104893725
dbSNP (classic)rs104893725
ClinGenrs104893725
ebirs104893725
HLIrs104893725
Exacrs104893725
Gnomadrs104893725
Varsomers104893725
LitVarrs104893725
Maprs104893725
PheGenIrs104893725
Biobankrs104893725
1000 genomesrs104893725
hgdprs104893725
ensemblrs104893725
geneviewrs104893725
scholarrs104893725
googlers104893725
pharmgkbrs104893725
gwascentralrs104893725
openSNPrs104893725
23andMers104893725
SNPshotrs104893725
SNPdbers104893725
MSV3drs104893725
GWAS Ctlgrs104893725
Max Magnitude0
OMIM603959
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104893725(C;C)
Alt rs104893725(C;C)
Reference Rs104893725(T;T)
Significance Pathogenic
Disease Primary hypomagnesemia
Variation info
Gene CLDN16
CLNDBN Primary hypomagnesemia
Reversed 0
HGVS NC_000003.11:g.190122623T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006293.3,