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rs118203980

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118203980(C;G)
Make rs118203980(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position42739895
GeneCLDN19
is asnp
is mentioned by
dbSNPrs118203980
ebirs118203980
HLIrs118203980
Exacrs118203980
Varsomers118203980
Maprs118203980
PheGenIrs118203980
hapmaprs118203980
1000 genomesrs118203980
hgdprs118203980
ensemblrs118203980
gopubmedrs118203980
geneviewrs118203980
scholarrs118203980
googlers118203980
pharmgkbrs118203980
gwascentralrs118203980
openSNPrs118203980
23andMers118203980
23andMe allrs118203980
SNP Nexus

SNPshotrs118203980
SNPdbers118203980
MSV3drs118203980
GWAS Ctlgrs118203980
Max Magnitude0
OMIM610036
Desc
Variant0002
Relatedalso
ClinVar
Risk rs118203980(G;G)
Alt rs118203980(G;G)
Reference rs118203980(C;C)
Significance Pathogenic
Disease Hypomagnesemia 5
Variation info
Gene CLDN19
CLNDBN Hypomagnesemia 5, renal, with ocular involvement
Reversed 1
HGVS NC_000001.10:g.43205566G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001427.2,