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rs199422143

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199422143(-;-)
Make rs199422143(-;A)
ReferenceGRCh38 38.1/141
Chromosome1
Position197142662
GeneASPM
is asnp
is mentioned by
dbSNPrs199422143
ebirs199422143
HLIrs199422143
Exacrs199422143
Varsomers199422143
Maprs199422143
PheGenIrs199422143
hapmaprs199422143
1000 genomesrs199422143
hgdprs199422143
ensemblrs199422143
gopubmedrs199422143
geneviewrs199422143
scholarrs199422143
googlers199422143
pharmgkbrs199422143
gwascentralrs199422143
openSNPrs199422143
23andMers199422143
23andMe allrs199422143
SNP Nexus

SNPshotrs199422143
SNPdbers199422143
MSV3drs199422143
GWAS Ctlgrs199422143
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs199422143(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.197111792delT
CLNSRC ClinVar GeneReviews
CLNACC RCV000020746.1,