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rs104893724

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104893724(G;G)
Make rs104893724(G;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position190388331
GeneCLDN16
is asnp
is mentioned by
dbSNPrs104893724
dbSNP (classic)rs104893724
ClinGenrs104893724
ebirs104893724
HLIrs104893724
Exacrs104893724
Gnomadrs104893724
Varsomers104893724
LitVarrs104893724
Maprs104893724
PheGenIrs104893724
Biobankrs104893724
1000 genomesrs104893724
hgdprs104893724
ensemblrs104893724
geneviewrs104893724
scholarrs104893724
googlers104893724
pharmgkbrs104893724
gwascentralrs104893724
openSNPrs104893724
23andMers104893724
SNPshotrs104893724
SNPdbers104893724
MSV3drs104893724
GWAS Ctlgrs104893724
Max Magnitude0
OMIM603959
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104893724(G;G)
Alt rs104893724(G;G)
Reference Rs104893724(T;T)
Significance Pathogenic
Disease Primary hypomagnesemia
Variation info
Gene CLDN16
CLNDBN Primary hypomagnesemia
Reversed 0
HGVS NC_000003.11:g.190106120T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006292.3,