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rs199422172

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(ATATT;ATATT) 0 common in clinvar
(TATTA;TATTA) 0 common in clinvar
Make rs199422172(-;-)
Make rs199422172(-;TATAT)
Make rs199422172(TATAT;TATAT)
ReferenceGRCh38 38.1/141
Chromosome1
Position197101758
GeneASPM
is asnp
is mentioned by
dbSNPrs199422172
ebirs199422172
HLIrs199422172
Exacrs199422172
Varsomers199422172
Maprs199422172
PheGenIrs199422172
hapmaprs199422172
1000 genomesrs199422172
hgdprs199422172
ensemblrs199422172
gopubmedrs199422172
geneviewrs199422172
scholarrs199422172
googlers199422172
pharmgkbrs199422172
gwascentralrs199422172
openSNPrs199422172
23andMers199422172
23andMe allrs199422172
SNP Nexus

SNPshotrs199422172
SNPdbers199422172
MSV3drs199422172
GWAS Ctlgrs199422172
Max Magnitude0
ClinVar
Risk rs199422172(;)
Alt rs199422172(;)
Reference rs199422172(TATTA;TATTA)
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.197070888_197070892delATATA
CLNSRC ClinVar GeneReviews
CLNACC RCV000020790.1,