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rs199422193

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TTAAA;TTAAA) 0 common in clinvar
Make rs199422193(-;-)
Make rs199422193(-;TTAAA)
ReferenceGRCh38 38.1/141
Chromosome1
Position197090335
GeneASPM
is asnp
is mentioned by
dbSNPrs199422193
ebirs199422193
HLIrs199422193
Exacrs199422193
Varsomers199422193
Maprs199422193
PheGenIrs199422193
hapmaprs199422193
1000 genomesrs199422193
hgdprs199422193
ensemblrs199422193
gopubmedrs199422193
geneviewrs199422193
scholarrs199422193
googlers199422193
pharmgkbrs199422193
gwascentralrs199422193
openSNPrs199422193
23andMers199422193
23andMe allrs199422193
SNP Nexus

SNPshotrs199422193
SNPdbers199422193
MSV3drs199422193
GWAS Ctlgrs199422193
Max Magnitude0
ClinVar
Risk rs199422193(;)
Alt rs199422193(;)
Reference rs199422193(TTAAA;TTAAA)
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.197059465_197059469delTTTAA
CLNSRC ClinVar GeneReviews
CLNACC RCV000020823.1,