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rs104893729

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893729(G;T)
Make rs104893729(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position190404787
GeneCLDN16
is asnp
is mentioned by
dbSNPrs104893729
dbSNP (classic)rs104893729
ClinGenrs104893729
ebirs104893729
HLIrs104893729
Exacrs104893729
Gnomadrs104893729
Varsomers104893729
LitVarrs104893729
Maprs104893729
PheGenIrs104893729
Biobankrs104893729
1000 genomesrs104893729
hgdprs104893729
ensemblrs104893729
geneviewrs104893729
scholarrs104893729
googlers104893729
pharmgkbrs104893729
gwascentralrs104893729
openSNPrs104893729
23andMers104893729
SNPshotrs104893729
SNPdbers104893729
MSV3drs104893729
GWAS Ctlgrs104893729
Max Magnitude0
OMIM603959
Desc
Variant0010
Relatedalso
ClinVar
Risk rs104893729(T;T)
Alt rs104893729(T;T)
Reference Rs104893729(G;G)
Significance Pathogenic
Disease Primary hypomagnesemia
Variation info
Gene CLDN16
CLNDBN Primary hypomagnesemia
Reversed 0
HGVS NC_000003.11:g.190122576G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006297.3,