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rs104893728

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893728(C;T)
Make rs104893728(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position190408425
GeneCLDN16
is asnp
is mentioned by
dbSNPrs104893728
dbSNP (classic)rs104893728
ClinGenrs104893728
ebirs104893728
HLIrs104893728
Exacrs104893728
Gnomadrs104893728
Varsomers104893728
LitVarrs104893728
Maprs104893728
PheGenIrs104893728
Biobankrs104893728
1000 genomesrs104893728
hgdprs104893728
ensemblrs104893728
geneviewrs104893728
scholarrs104893728
googlers104893728
pharmgkbrs104893728
gwascentralrs104893728
openSNPrs104893728
23andMers104893728
SNPshotrs104893728
SNPdbers104893728
MSV3drs104893728
GWAS Ctlgrs104893728
Max Magnitude0
OMIM603959
Desc
Variant0009
Relatedalso
ClinVar
Risk rs104893728(T;T)
Alt rs104893728(T;T)
Reference Rs104893728(C;C)
Significance Pathogenic
Disease Primary hypomagnesemia
Variation info
Gene CLDN16
CLNDBN Primary hypomagnesemia
Reversed 0
HGVS NC_000003.11:g.190126214C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006296.3,