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rs199422169

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AT;AT) 0 common in clinvar
Make rs199422169(-;-)
Make rs199422169(-;AT)
ReferenceGRCh38 38.1/141
Chromosome1
Position197102915
GeneASPM
is asnp
is mentioned by
dbSNPrs199422169
ebirs199422169
HLIrs199422169
Exacrs199422169
Varsomers199422169
Maprs199422169
PheGenIrs199422169
hapmaprs199422169
1000 genomesrs199422169
hgdprs199422169
ensemblrs199422169
gopubmedrs199422169
geneviewrs199422169
scholarrs199422169
googlers199422169
pharmgkbrs199422169
gwascentralrs199422169
openSNPrs199422169
23andMers199422169
23andMe allrs199422169
SNP Nexus

SNPshotrs199422169
SNPdbers199422169
MSV3drs199422169
GWAS Ctlgrs199422169
Max Magnitude0
ClinVar
Risk rs199422169(;)
Alt rs199422169(;)
Reference rs199422169(AT;AT)
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.197072045_197072046delAT
CLNSRC ClinVar GeneReviews
CLNACC RCV000020785.1,