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rs199422147

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CAAA;CAAA) 0 common in clinvar
Make rs199422147(-;-)
Make rs199422147(-;CAAA)
ReferenceGRCh38 38.1/141
Chromosome1
Position197139831
GeneASPM
is asnp
is mentioned by
dbSNPrs199422147
ebirs199422147
HLIrs199422147
Exacrs199422147
Varsomers199422147
Maprs199422147
PheGenIrs199422147
hapmaprs199422147
1000 genomesrs199422147
hgdprs199422147
ensemblrs199422147
gopubmedrs199422147
geneviewrs199422147
scholarrs199422147
googlers199422147
pharmgkbrs199422147
gwascentralrs199422147
openSNPrs199422147
23andMers199422147
23andMe allrs199422147
SNP Nexus

SNPshotrs199422147
SNPdbers199422147
MSV3drs199422147
GWAS Ctlgrs199422147
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs199422147(CAAA;CAAA)
Significance Pathogenic
Disease Primary autosomal recessive microcephaly 5 not provided
Variation info
Gene ASPM
CLNDBN Primary autosomal recessive microcephaly 5 not provided
Reversed 1
HGVS NC_000001.10:g.197108961_197108964delTTTG
CLNSRC ClinVar GeneReviews University of Chicago
CLNACC RCV000020750.2, RCV000215743.1,