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rs199422152

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199422152(A;A)
Make rs199422152(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position197125161
GeneASPM
is asnp
is mentioned by
dbSNPrs199422152
ebirs199422152
HLIrs199422152
Exacrs199422152
Varsomers199422152
Maprs199422152
PheGenIrs199422152
hapmaprs199422152
1000 genomesrs199422152
hgdprs199422152
ensemblrs199422152
gopubmedrs199422152
geneviewrs199422152
scholarrs199422152
googlers199422152
pharmgkbrs199422152
gwascentralrs199422152
openSNPrs199422152
23andMers199422152
23andMe allrs199422152
SNP Nexus

SNPshotrs199422152
SNPdbers199422152
MSV3drs199422152
GWAS Ctlgrs199422152
Max Magnitude0
ClinVar
Risk rs199422152(A;A)
Alt rs199422152(A;A)
Reference rs199422152(G;G)
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.197094291C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020760.1,