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rs199422192

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199422192(-;-)
Make rs199422192(-;A)
ReferenceGRCh38 38.1/141
Chromosome1
Position197090344
GeneASPM
is asnp
is mentioned by
dbSNPrs199422192
ebirs199422192
HLIrs199422192
Exacrs199422192
Varsomers199422192
Maprs199422192
PheGenIrs199422192
hapmaprs199422192
1000 genomesrs199422192
hgdprs199422192
ensemblrs199422192
gopubmedrs199422192
geneviewrs199422192
scholarrs199422192
googlers199422192
pharmgkbrs199422192
gwascentralrs199422192
openSNPrs199422192
23andMers199422192
23andMe allrs199422192
SNP Nexus

SNPshotrs199422192
SNPdbers199422192
MSV3drs199422192
GWAS Ctlgrs199422192
Max Magnitude0
ClinVar
Risk rs199422192(;)
Alt rs199422192(;)
Reference rs199422192(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.197059474delT
CLNSRC ClinVar GeneReviews
CLNACC RCV000020822.1,