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rs199422200

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199422200(G;T)
Make rs199422200(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position197089929
GeneASPM
is asnp
is mentioned by
dbSNPrs199422200
ebirs199422200
HLIrs199422200
Exacrs199422200
Varsomers199422200
Maprs199422200
PheGenIrs199422200
hapmaprs199422200
1000 genomesrs199422200
hgdprs199422200
ensemblrs199422200
gopubmedrs199422200
geneviewrs199422200
scholarrs199422200
googlers199422200
pharmgkbrs199422200
gwascentralrs199422200
openSNPrs199422200
23andMers199422200
23andMe allrs199422200
SNP Nexus

SNPshotrs199422200
SNPdbers199422200
MSV3drs199422200
GWAS Ctlgrs199422200
Max Magnitude0
ClinVar
Risk rs199422200(T;T)
Alt rs199422200(T;T)
Reference rs199422200(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.197059059C>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020831.1,