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

rs1057091

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057091(C;T)
Make rs1057091(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position6643023
GeneMCPH1, MCPH1-AS1
is asnp
is mentioned by
dbSNPrs1057091
dbSNP (old)rs1057091
ClinGenrs1057091
ebirs1057091
HLIrs1057091
Exacrs1057091
Gnomadrs1057091
Varsomers1057091
Maprs1057091
PheGenIrs1057091
Biobankrs1057091
1000 genomesrs1057091
hgdprs1057091
ensemblrs1057091
gopubmedrs1057091
geneviewrs1057091
scholarrs1057091
googlers1057091
pharmgkbrs1057091
gwascentralrs1057091
openSNPrs1057091
23andMers1057091
23andMe allrs1057091
SNPshotrs1057091
SNPdbers1057091
MSV3drs1057091
GWAS Ctlgrs1057091
GMAF0.2254
Max Magnitude0
? (C;C) (C;T) (T;T) 28


ClinVar
Risk rs1057091(T;T)
Alt rs1057091(T;T)
Reference Rs1057091(C;C)
Significance Probable-non-pathogenic
Disease Primary autosomal recessive microcephaly 1 not specified Primary Microcephaly
Variation info
Gene MCPH1-AS1 MCPH1
CLNDBN Primary autosomal recessive microcephaly 1 not specified Primary Microcephaly, Recessive
Reversed 0
HGVS NC_000008.10:g.6500544C>T
CLNSRC ClinVar GeneReviews University of Chicago
CLNACC RCV000020901.1, RCV000146321.2, RCV000361851.1,