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rs118203979

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118203979(A;A)
Make rs118203979(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position42740005
GeneCLDN19
is asnp
is mentioned by
dbSNPrs118203979
ebirs118203979
HLIrs118203979
Exacrs118203979
Varsomers118203979
Maprs118203979
PheGenIrs118203979
hapmaprs118203979
1000 genomesrs118203979
hgdprs118203979
ensemblrs118203979
gopubmedrs118203979
geneviewrs118203979
scholarrs118203979
googlers118203979
pharmgkbrs118203979
gwascentralrs118203979
openSNPrs118203979
23andMers118203979
23andMe allrs118203979
SNP Nexus

SNPshotrs118203979
SNPdbers118203979
MSV3drs118203979
GWAS Ctlgrs118203979
Max Magnitude0
OMIM610036
Desc
Variant0001
Relatedalso
ClinVar
Risk rs118203979(A;A)
Alt rs118203979(A;A)
Reference rs118203979(G;G)
Significance Pathogenic
Disease Hypomagnesemia 5
Variation info
Gene CLDN19
CLNDBN Hypomagnesemia 5, renal, with ocular involvement
Reversed 1
HGVS NC_000001.10:g.43205676C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001426.2,