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rs199422144

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(ATCTT;ATCTT) 0 common in clinvar
(TTATC;TTATC) 0 common in clinvar
Make rs199422144(-;-)
Make rs199422144(-;CTTAT)
Make rs199422144(CTTAT;CTTAT)
ReferenceGRCh38 38.1/141
Chromosome1
Position197142620
GeneASPM
is asnp
is mentioned by
dbSNPrs199422144
ebirs199422144
HLIrs199422144
Exacrs199422144
Varsomers199422144
Maprs199422144
PheGenIrs199422144
hapmaprs199422144
1000 genomesrs199422144
hgdprs199422144
ensemblrs199422144
gopubmedrs199422144
geneviewrs199422144
scholarrs199422144
googlers199422144
pharmgkbrs199422144
gwascentralrs199422144
openSNPrs199422144
23andMers199422144
23andMe allrs199422144
SNP Nexus

SNPshotrs199422144
SNPdbers199422144
MSV3drs199422144
GWAS Ctlgrs199422144
Max Magnitude0
ClinVar
Risk rs199422144(;)
Alt rs199422144(;)
Reference rs199422144(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,