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rs121434388

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs121434388(A;G)
Make rs121434388(G;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position22992836
GeneRBBP8
is asnp
is mentioned by
dbSNPrs121434388
ClinGenrs121434388
ebirs121434388
HLIrs121434388
Exacrs121434388
Varsomers121434388
Maprs121434388
PheGenIrs121434388
hapmaprs121434388
1000 genomesrs121434388
hgdprs121434388
ensemblrs121434388
gopubmedrs121434388
geneviewrs121434388
scholarrs121434388
googlers121434388
pharmgkbrs121434388
gwascentralrs121434388
openSNPrs121434388
23andMers121434388
23andMe allrs121434388
SNP Nexus

SNPshotrs121434388
SNPdbers121434388
MSV3drs121434388
GWAS Ctlgrs121434388
Max Magnitude0
OMIM604124
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434388(G;G)
Alt rs121434388(G;G)
Reference Rs121434388(A;A)
Significance Pathogenic
Disease Carcinoma of pancreas Seckel syndrome Microcephaly with mental retardation and digital anomalies
Variation info
Gene RBBP8
CLNDBN Carcinoma of pancreas Seckel syndrome Microcephaly with mental retardation and digital anomalies
Reversed 0
HGVS NC_000018.9:g.20572799A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000006180.4, RCV000281881.1, RCV000318254.1,