Have questions? Visit https://www.reddit.com/r/SNPedia

rs121434305

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434305(C;G)
Make rs121434305(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position6409330
GeneMCPH1
is asnp
is mentioned by
dbSNPrs121434305
ebirs121434305
HLIrs121434305
Exacrs121434305
Varsomers121434305
Maprs121434305
PheGenIrs121434305
hapmaprs121434305
1000 genomesrs121434305
hgdprs121434305
ensemblrs121434305
gopubmedrs121434305
geneviewrs121434305
scholarrs121434305
googlers121434305
pharmgkbrs121434305
gwascentralrs121434305
openSNPrs121434305
23andMers121434305
23andMe allrs121434305
SNP Nexus

SNPshotrs121434305
SNPdbers121434305
MSV3drs121434305
GWAS Ctlgrs121434305
Max Magnitude0
OMIM607117
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434305(G;G)
Alt rs121434305(G;G)
Reference rs121434305(C;C)
Significance Pathogenic
Disease Primary autosomal recessive microcephaly 1
Variation info
Gene MCPH1
CLNDBN Primary autosomal recessive microcephaly 1
Reversed 0
HGVS NC_000008.10:g.6266851C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000003618.2,