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rs121918161

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918161(C;T)
Make rs121918161(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position30997289
GeneRNF135
is asnp
is mentioned by
dbSNPrs121918161
ebirs121918161
HLIrs121918161
Exacrs121918161
Varsomers121918161
Maprs121918161
PheGenIrs121918161
hapmaprs121918161
1000 genomesrs121918161
hgdprs121918161
ensemblrs121918161
gopubmedrs121918161
geneviewrs121918161
scholarrs121918161
googlers121918161
pharmgkbrs121918161
gwascentralrs121918161
openSNPrs121918161
23andMers121918161
23andMe allrs121918161
SNP Nexus

SNPshotrs121918161
SNPdbers121918161
MSV3drs121918161
GWAS Ctlgrs121918161
Max Magnitude0
OMIM611358
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918161(T;T)
Alt rs121918161(T;T)
Reference rs121918161(C;C)
Significance Pathogenic
Disease Macrocephaly
Variation info
Gene RNF135
CLNDBN Macrocephaly, macrosomia, facial dysmorphism syndrome
Reversed 0
HGVS NC_000017.10:g.29324307C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001026.3,