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rs104893723

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893723(A;A)
Make rs104893723(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position190408314
GeneCLDN16
is asnp
is mentioned by
dbSNPrs104893723
dbSNP (classic)rs104893723
ClinGenrs104893723
ebirs104893723
HLIrs104893723
Exacrs104893723
Gnomadrs104893723
Varsomers104893723
LitVarrs104893723
Maprs104893723
PheGenIrs104893723
Biobankrs104893723
1000 genomesrs104893723
hgdprs104893723
ensemblrs104893723
geneviewrs104893723
scholarrs104893723
googlers104893723
pharmgkbrs104893723
gwascentralrs104893723
openSNPrs104893723
23andMers104893723
SNPshotrs104893723
SNPdbers104893723
MSV3drs104893723
GWAS Ctlgrs104893723
Max Magnitude0
OMIM603959
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104893723(A;A)
Alt rs104893723(A;A)
Reference Rs104893723(G;G)
Significance Pathogenic
Disease Primary hypomagnesemia
Variation info
Gene CLDN16
CLNDBN Primary hypomagnesemia
Reversed 0
HGVS NC_000003.11:g.190126103G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006291.3,