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rs199422173

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GA;GA) 0 common in clinvar
Make rs199422173(-;-)
Make rs199422173(-;GA)
ReferenceGRCh38 38.1/141
Chromosome1
Position197101468
GeneASPM
is asnp
is mentioned by
dbSNPrs199422173
ebirs199422173
HLIrs199422173
Exacrs199422173
Varsomers199422173
Maprs199422173
PheGenIrs199422173
hapmaprs199422173
1000 genomesrs199422173
hgdprs199422173
ensemblrs199422173
gopubmedrs199422173
geneviewrs199422173
scholarrs199422173
googlers199422173
pharmgkbrs199422173
gwascentralrs199422173
openSNPrs199422173
23andMers199422173
23andMe allrs199422173
SNP Nexus

SNPshotrs199422173
SNPdbers199422173
MSV3drs199422173
GWAS Ctlgrs199422173
Max Magnitude0
ClinVar
Risk rs199422173(;)
Alt rs199422173(;)
Reference rs199422173(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.197070598_197070599delTC
CLNSRC ClinVar GeneReviews University of Chicago
CLNACC RCV000020796.4,