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rs199422170

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AACA;AACA) 0 common in clinvar
Make rs199422170(-;-)
Make rs199422170(-;AACA)
ReferenceGRCh38 38.1/141
Chromosome1
Position197102597
GeneASPM
is asnp
is mentioned by
dbSNPrs199422170
ebirs199422170
HLIrs199422170
Exacrs199422170
Varsomers199422170
Maprs199422170
PheGenIrs199422170
hapmaprs199422170
1000 genomesrs199422170
hgdprs199422170
ensemblrs199422170
gopubmedrs199422170
geneviewrs199422170
scholarrs199422170
googlers199422170
pharmgkbrs199422170
gwascentralrs199422170
openSNPrs199422170
23andMers199422170
23andMe allrs199422170
SNP Nexus

SNPshotrs199422170
SNPdbers199422170
MSV3drs199422170
GWAS Ctlgrs199422170
Max Magnitude0
ClinVar
Risk rs199422170(;)
Alt rs199422170(;)
Reference rs199422170(AACA;AACA)
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.197071727_197071730delTGTT
CLNSRC ClinVar GeneReviews
CLNACC RCV000020786.1,