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rs199422145

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(ATCTT;ATCTT) 0 common in clinvar
Make rs199422145(-;-)
Make rs199422145(-;ATCTT)
ReferenceGRCh38 38.1/141
Chromosome1
Position197142617
GeneASPM
is asnp
is mentioned by
dbSNPrs199422145
ebirs199422145
HLIrs199422145
Exacrs199422145
Varsomers199422145
Maprs199422145
PheGenIrs199422145
hapmaprs199422145
1000 genomesrs199422145
hgdprs199422145
ensemblrs199422145
gopubmedrs199422145
geneviewrs199422145
scholarrs199422145
googlers199422145
pharmgkbrs199422145
gwascentralrs199422145
openSNPrs199422145
23andMers199422145
23andMe allrs199422145
SNP Nexus

SNPshotrs199422145
SNPdbers199422145
MSV3drs199422145
GWAS Ctlgrs199422145
Max Magnitude0
ClinVar
Risk rs199422145(;)
Alt rs199422145(;)
Reference rs199422145(ATCTT;ATCTT)
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.197111747_197111751delAAGAT
CLNSRC ClinVar GeneReviews
CLNACC RCV000020748.3,