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rs199422180

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GA;GA) 0 common in clinvar
Make rs199422180(-;-)
Make rs199422180(-;GA)
ReferenceGRCh38 38.1/141
Chromosome1
Position197100742
GeneASPM
is asnp
is mentioned by
dbSNPrs199422180
ebirs199422180
HLIrs199422180
Exacrs199422180
Varsomers199422180
Maprs199422180
PheGenIrs199422180
hapmaprs199422180
1000 genomesrs199422180
hgdprs199422180
ensemblrs199422180
gopubmedrs199422180
geneviewrs199422180
scholarrs199422180
googlers199422180
pharmgkbrs199422180
gwascentralrs199422180
openSNPrs199422180
23andMers199422180
23andMe allrs199422180
SNP Nexus

SNPshotrs199422180
SNPdbers199422180
MSV3drs199422180
GWAS Ctlgrs199422180
Max Magnitude0
ClinVar
Risk rs199422180(;)
Alt rs199422180(;)
Reference rs199422180(GA;GA)
Significance Pathogenic
Disease Primary autosomal recessive microcephaly 5
Variation info
Gene ASPM
CLNDBN Primary autosomal recessive microcephaly 5
Reversed 1
HGVS NC_000001.10:g.197069872_197069873delTC
CLNSRC ClinVar GeneReviews
CLNACC RCV000020807.1,