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rs199422142

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(ATCCTAAA;ATCCTAAA) 0 common in clinvar
Make rs199422142(-;-)
Make rs199422142(-;ATCCTAAA)
ReferenceGRCh38 38.1/141
Chromosome1
Position197142839
GeneASPM
is asnp
is mentioned by
dbSNPrs199422142
ebirs199422142
HLIrs199422142
Exacrs199422142
Varsomers199422142
Maprs199422142
PheGenIrs199422142
hapmaprs199422142
1000 genomesrs199422142
hgdprs199422142
ensemblrs199422142
gopubmedrs199422142
geneviewrs199422142
scholarrs199422142
googlers199422142
pharmgkbrs199422142
gwascentralrs199422142
openSNPrs199422142
23andMers199422142
23andMe allrs199422142
SNP Nexus

SNPshotrs199422142
SNPdbers199422142
MSV3drs199422142
GWAS Ctlgrs199422142
Max Magnitude0
ClinVar
Risk rs199422142(;)
Alt rs199422142(;)
Reference rs199422142(ATCCTAAA;ATCCTAAA)
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.197111969_197111976delTTTAGGAT
CLNSRC ClinVar GeneReviews
CLNACC RCV000020745.1,