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rs104893720

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893720(C;T)
Make rs104893720(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position190404779
GeneCLDN16
is asnp
is mentioned by
dbSNPrs104893720
dbSNP (classic)rs104893720
ClinGenrs104893720
ebirs104893720
HLIrs104893720
Exacrs104893720
Gnomadrs104893720
Varsomers104893720
LitVarrs104893720
Maprs104893720
PheGenIrs104893720
Biobankrs104893720
1000 genomesrs104893720
hgdprs104893720
ensemblrs104893720
geneviewrs104893720
scholarrs104893720
googlers104893720
pharmgkbrs104893720
gwascentralrs104893720
openSNPrs104893720
23andMers104893720
SNPshotrs104893720
SNPdbers104893720
MSV3drs104893720
GWAS Ctlgrs104893720
Max Magnitude0
OMIM603959
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104893720(T;T)
Alt rs104893720(T;T)
Reference Rs104893720(C;C)
Significance Pathogenic
Disease Primary hypomagnesemia
Variation info
Gene CLDN16
CLNDBN Primary hypomagnesemia
Reversed 0
HGVS NC_000003.11:g.190122568C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006288.3,