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rs199422167

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199422167(-;-)
Make rs199422167(-;A)
ReferenceGRCh38 38.1/141
Chromosome1
Position197104102
GeneASPM
is asnp
is mentioned by
dbSNPrs199422167
ebirs199422167
HLIrs199422167
Exacrs199422167
Varsomers199422167
Maprs199422167
PheGenIrs199422167
hapmaprs199422167
1000 genomesrs199422167
hgdprs199422167
ensemblrs199422167
gopubmedrs199422167
geneviewrs199422167
scholarrs199422167
googlers199422167
pharmgkbrs199422167
gwascentralrs199422167
openSNPrs199422167
23andMers199422167
23andMe allrs199422167
SNP Nexus

SNPshotrs199422167
SNPdbers199422167
MSV3drs199422167
GWAS Ctlgrs199422167
Max Magnitude0
ClinVar
Risk rs199422167(;)
Alt rs199422167(;)
Reference rs199422167(A;A)
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.197073232delT
CLNSRC ClinVar GeneReviews
CLNACC RCV000020781.1,