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rs121918162

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918162(A;A)
Make rs121918162(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position30998749
GeneRNF135
is asnp
is mentioned by
dbSNPrs121918162
ebirs121918162
HLIrs121918162
Exacrs121918162
Varsomers121918162
Maprs121918162
PheGenIrs121918162
hapmaprs121918162
1000 genomesrs121918162
hgdprs121918162
ensemblrs121918162
gopubmedrs121918162
geneviewrs121918162
scholarrs121918162
googlers121918162
pharmgkbrs121918162
gwascentralrs121918162
openSNPrs121918162
23andMers121918162
23andMe allrs121918162
SNP Nexus

SNPshotrs121918162
SNPdbers121918162
MSV3drs121918162
GWAS Ctlgrs121918162
Max Magnitude0
OMIM611358
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121918162(A;A)
Alt rs121918162(A;A)
Reference rs121918162(G;G)
Significance Pathogenic
Disease Macrocephaly
Variation info
Gene RNF135
CLNDBN Macrocephaly, macrosomia, facial dysmorphism syndrome
Reversed 0
HGVS NC_000017.10:g.29325767G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001029.3,