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rs104893721

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893721(A;A)
Make rs104893721(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position190408436
GeneCLDN16
is asnp
is mentioned by
dbSNPrs104893721
dbSNP (classic)rs104893721
ClinGenrs104893721
ebirs104893721
HLIrs104893721
Exacrs104893721
Gnomadrs104893721
Varsomers104893721
LitVarrs104893721
Maprs104893721
PheGenIrs104893721
Biobankrs104893721
1000 genomesrs104893721
hgdprs104893721
ensemblrs104893721
geneviewrs104893721
scholarrs104893721
googlers104893721
pharmgkbrs104893721
gwascentralrs104893721
openSNPrs104893721
23andMers104893721
SNPshotrs104893721
SNPdbers104893721
MSV3drs104893721
GWAS Ctlgrs104893721
Max Magnitude0
OMIM603959
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104893721(A;A)
Alt rs104893721(A;A)
Reference Rs104893721(G;G)
Significance Pathogenic
Disease Primary hypomagnesemia
Variation info
Gene CLDN16
CLNDBN Primary hypomagnesemia
Reversed 0
HGVS NC_000003.11:g.190126225G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006289.3,