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rs199422188

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199422188(-;-)
Make rs199422188(-;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position197090979
GeneASPM
is asnp
is mentioned by
dbSNPrs199422188
ebirs199422188
HLIrs199422188
Exacrs199422188
Varsomers199422188
Maprs199422188
PheGenIrs199422188
hapmaprs199422188
1000 genomesrs199422188
hgdprs199422188
ensemblrs199422188
gopubmedrs199422188
geneviewrs199422188
scholarrs199422188
googlers199422188
pharmgkbrs199422188
gwascentralrs199422188
openSNPrs199422188
23andMers199422188
23andMe allrs199422188
SNP Nexus

SNPshotrs199422188
SNPdbers199422188
MSV3drs199422188
GWAS Ctlgrs199422188
Max Magnitude0
ClinVar
Risk rs199422188(;)
Alt rs199422188(;)
Reference rs199422188(G;G)
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.197060109delC
CLNSRC ClinVar GeneReviews
CLNACC RCV000020817.1,