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rs121434567

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434567(C;T)
Make rs121434567(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position110004540
GeneEGF
is asnp
is mentioned by
dbSNPrs121434567
ebirs121434567
HLIrs121434567
Exacrs121434567
Varsomers121434567
Maprs121434567
PheGenIrs121434567
hapmaprs121434567
1000 genomesrs121434567
hgdprs121434567
ensemblrs121434567
gopubmedrs121434567
geneviewrs121434567
scholarrs121434567
googlers121434567
pharmgkbrs121434567
gwascentralrs121434567
openSNPrs121434567
23andMers121434567
23andMe allrs121434567
SNP Nexus

SNPshotrs121434567
SNPdbers121434567
MSV3drs121434567
GWAS Ctlgrs121434567
Max Magnitude0
OMIM131530
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434567(T;T)
Alt rs121434567(T;T)
Reference rs121434567(C;C)
Significance Pathogenic
Disease Hypomagnesemia 4
Variation info
Gene EGF
CLNDBN Hypomagnesemia 4, renal
Reversed 0
HGVS NC_000004.11:g.110925696C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018089.27,