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rs121434606

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121434606(A;G)
Make rs121434606(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position114250382
GeneZBTB16
is asnp
is mentioned by
dbSNPrs121434606
dbSNP (classic)rs121434606
ClinGenrs121434606
ebirs121434606
HLIrs121434606
Exacrs121434606
Gnomadrs121434606
Varsomers121434606
LitVarrs121434606
Maprs121434606
PheGenIrs121434606
Biobankrs121434606
1000 genomesrs121434606
hgdprs121434606
ensemblrs121434606
geneviewrs121434606
scholarrs121434606
googlers121434606
pharmgkbrs121434606
gwascentralrs121434606
openSNPrs121434606
23andMers121434606
SNPshotrs121434606
SNPdbers121434606
MSV3drs121434606
GWAS Ctlgrs121434606
Max Magnitude0
OMIM176797
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434606(G;G)
Alt rs121434606(G;G)
Reference Rs121434606(A;A)
Significance Pathogenic
Disease Skeletal defects
Variation info
Gene ZBTB16
CLNDBN Skeletal defects, genital hypoplasia, and mental retardation
Reversed 0
HGVS NC_000011.9:g.114121104A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014305.25,