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rs199422125

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs199422125(-;-)
Make rs199422125(-;A)
Make rs199422125(A;A)
ReferenceGRCh38 38.1/141
Chromosome8
Position6436153
GeneMCPH1
is asnp
is mentioned by
dbSNPrs199422125
ebirs199422125
HLIrs199422125
Exacrs199422125
Varsomers199422125
Maprs199422125
PheGenIrs199422125
hapmaprs199422125
1000 genomesrs199422125
hgdprs199422125
ensemblrs199422125
gopubmedrs199422125
geneviewrs199422125
scholarrs199422125
googlers199422125
pharmgkbrs199422125
gwascentralrs199422125
openSNPrs199422125
23andMers199422125
23andMe allrs199422125
SNP Nexus

SNPshotrs199422125
SNPdbers199422125
MSV3drs199422125
GWAS Ctlgrs199422125
Max Magnitude0
ClinVar
Risk rs199422125(A;A)
Alt rs199422125(A;A)
Reference rs199422125(;)
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.6293674dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000003619.2,