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rs199422166

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AT;AT) 0 common in clinvar
Make rs199422166(-;-)
Make rs199422166(-;TA)
Make rs199422166(TA;TA)
ReferenceGRCh38 38.1/141
Chromosome1
Position197104395
GeneASPM
is asnp
is mentioned by
dbSNPrs199422166
ebirs199422166
HLIrs199422166
Exacrs199422166
Varsomers199422166
Maprs199422166
PheGenIrs199422166
hapmaprs199422166
1000 genomesrs199422166
hgdprs199422166
ensemblrs199422166
gopubmedrs199422166
geneviewrs199422166
scholarrs199422166
googlers199422166
pharmgkbrs199422166
gwascentralrs199422166
openSNPrs199422166
23andMers199422166
23andMe allrs199422166
SNP Nexus

SNPshotrs199422166
SNPdbers199422166
MSV3drs199422166
GWAS Ctlgrs199422166
Max Magnitude0
ClinVar
Risk rs199422166(;)
Alt rs199422166(;)
Reference rs199422166(AT;AT)
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.197073525_197073526delTA
CLNSRC ClinVar GeneReviews
CLNACC RCV000020779.1,