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rs199422190

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199422190(A;T)
Make rs199422190(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position197090891
GeneASPM
is asnp
is mentioned by
dbSNPrs199422190
ebirs199422190
HLIrs199422190
Exacrs199422190
Varsomers199422190
Maprs199422190
PheGenIrs199422190
hapmaprs199422190
1000 genomesrs199422190
hgdprs199422190
ensemblrs199422190
gopubmedrs199422190
geneviewrs199422190
scholarrs199422190
googlers199422190
pharmgkbrs199422190
gwascentralrs199422190
openSNPrs199422190
23andMers199422190
23andMe allrs199422190
SNP Nexus

SNPshotrs199422190
SNPdbers199422190
MSV3drs199422190
GWAS Ctlgrs199422190
Max Magnitude0
ClinVar
Risk rs199422190(T;T)
Alt rs199422190(T;T)
Reference rs199422190(A;A)
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.197060021T>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020820.1,