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rs121918229

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918229(A;C)
Make rs121918229(C;C)
ReferenceGRCh38 38.1/141
Chromosome6
Position43038891
GeneCUL7
is asnp
is mentioned by
dbSNPrs121918229
ebirs121918229
HLIrs121918229
Exacrs121918229
Varsomers121918229
Maprs121918229
PheGenIrs121918229
hapmaprs121918229
1000 genomesrs121918229
hgdprs121918229
ensemblrs121918229
gopubmedrs121918229
geneviewrs121918229
scholarrs121918229
googlers121918229
pharmgkbrs121918229
gwascentralrs121918229
openSNPrs121918229
23andMers121918229
23andMe allrs121918229
SNP Nexus

SNPshotrs121918229
SNPdbers121918229
MSV3drs121918229
GWAS Ctlgrs121918229
Max Magnitude0
OMIM609577
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121918229(C;C)
Alt rs121918229(C;C)
Reference rs121918229(A;A)
Significance Pathogenic
Disease Three M syndrome 1
Variation info
Gene CUL7
CLNDBN Three M syndrome 1
Reversed 1
HGVS NC_000006.11:g.43006629T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000001681.2,