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rs387906961

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906961(C;T)
Make rs387906961(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position6414865
GeneMCPH1
is asnp
is mentioned by
dbSNPrs387906961
ebirs387906961
HLIrs387906961
Exacrs387906961
Varsomers387906961
Maprs387906961
PheGenIrs387906961
hapmaprs387906961
1000 genomesrs387906961
hgdprs387906961
ensemblrs387906961
gopubmedrs387906961
geneviewrs387906961
scholarrs387906961
googlers387906961
pharmgkbrs387906961
gwascentralrs387906961
openSNPrs387906961
23andMers387906961
23andMe allrs387906961
SNP Nexus

SNPshotrs387906961
SNPdbers387906961
MSV3drs387906961
GWAS Ctlgrs387906961
Max Magnitude0
ClinVar
Risk rs387906961(T;T)
Alt rs387906961(T;T)
Reference rs387906961(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.6272386C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023616.2,