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rs199422191

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs199422191(-;-)
Make rs199422191(-;G)
Make rs199422191(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position197090347
GeneASPM
is asnp
is mentioned by
dbSNPrs199422191
ebirs199422191
HLIrs199422191
Exacrs199422191
Varsomers199422191
Maprs199422191
PheGenIrs199422191
hapmaprs199422191
1000 genomesrs199422191
hgdprs199422191
ensemblrs199422191
gopubmedrs199422191
geneviewrs199422191
scholarrs199422191
googlers199422191
pharmgkbrs199422191
gwascentralrs199422191
openSNPrs199422191
23andMers199422191
23andMe allrs199422191
SNP Nexus

SNPshotrs199422191
SNPdbers199422191
MSV3drs199422191
GWAS Ctlgrs199422191
Max Magnitude0
ClinVar
Risk rs199422191(G;G)
Alt rs199422191(G;G)
Reference rs199422191(;)
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.197059478dupC
CLNSRC ClinVar GeneReviews
CLNACC RCV000020821.1,