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rs199422196

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs199422196(-;-)
Make rs199422196(-;CT)
ReferenceGRCh38 38.1/141
Chromosome1
Position197090279
GeneASPM
is asnp
is mentioned by
dbSNPrs199422196
ebirs199422196
HLIrs199422196
Exacrs199422196
Varsomers199422196
Maprs199422196
PheGenIrs199422196
hapmaprs199422196
1000 genomesrs199422196
hgdprs199422196
ensemblrs199422196
gopubmedrs199422196
geneviewrs199422196
scholarrs199422196
googlers199422196
pharmgkbrs199422196
gwascentralrs199422196
openSNPrs199422196
23andMers199422196
23andMe allrs199422196
SNP Nexus

SNPshotrs199422196
SNPdbers199422196
MSV3drs199422196
GWAS Ctlgrs199422196
Max Magnitude0
ClinVar
Risk rs199422196(;)
Alt rs199422196(;)
Reference rs199422196(CT;CT)
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.197059409_197059410delAG
CLNSRC ClinVar GeneReviews
CLNACC RCV000020826.1,