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rs104893727

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893727(A;A)
Make rs104893727(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position190408419
GeneCLDN16
is asnp
is mentioned by
dbSNPrs104893727
dbSNP (classic)rs104893727
ClinGenrs104893727
ebirs104893727
HLIrs104893727
Exacrs104893727
Gnomadrs104893727
Varsomers104893727
LitVarrs104893727
Maprs104893727
PheGenIrs104893727
Biobankrs104893727
1000 genomesrs104893727
hgdprs104893727
ensemblrs104893727
geneviewrs104893727
scholarrs104893727
googlers104893727
pharmgkbrs104893727
gwascentralrs104893727
openSNPrs104893727
23andMers104893727
SNPshotrs104893727
SNPdbers104893727
MSV3drs104893727
GWAS Ctlgrs104893727
Max Magnitude0
OMIM603959
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104893727(A;A)
Alt rs104893727(A;A)
Reference Rs104893727(G;G)
Significance Pathogenic
Disease Primary hypomagnesemia
Variation info
Gene CLDN16
CLNDBN Primary hypomagnesemia
Reversed 0
HGVS NC_000003.11:g.190126208G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006295.3,