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rs118203981

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs118203981(C;C)
Make rs118203981(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position42738540
GeneCLDN19
is asnp
is mentioned by
dbSNPrs118203981
ebirs118203981
HLIrs118203981
Exacrs118203981
Varsomers118203981
Maprs118203981
PheGenIrs118203981
hapmaprs118203981
1000 genomesrs118203981
hgdprs118203981
ensemblrs118203981
gopubmedrs118203981
geneviewrs118203981
scholarrs118203981
googlers118203981
pharmgkbrs118203981
gwascentralrs118203981
openSNPrs118203981
23andMers118203981
23andMe allrs118203981
SNP Nexus

SNPshotrs118203981
SNPdbers118203981
MSV3drs118203981
GWAS Ctlgrs118203981
Max Magnitude0
OMIM610036
Desc
Variant0003
Relatedalso
ClinVar
Risk rs118203981(C;C)
Alt rs118203981(C;C)
Reference rs118203981(T;T)
Significance Pathogenic
Disease Hypomagnesemia 5
Variation info
Gene CLDN19
CLNDBN Hypomagnesemia 5, renal, with ocular involvement
Reversed 1
HGVS NC_000001.10:g.43204211A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000001428.2,