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rs199422199

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199422199(A;T)
Make rs199422199(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position197090073
GeneASPM
is asnp
is mentioned by
dbSNPrs199422199
ebirs199422199
HLIrs199422199
Exacrs199422199
Varsomers199422199
Maprs199422199
PheGenIrs199422199
hapmaprs199422199
1000 genomesrs199422199
hgdprs199422199
ensemblrs199422199
gopubmedrs199422199
geneviewrs199422199
scholarrs199422199
googlers199422199
pharmgkbrs199422199
gwascentralrs199422199
openSNPrs199422199
23andMers199422199
23andMe allrs199422199
SNP Nexus

SNPshotrs199422199
SNPdbers199422199
MSV3drs199422199
GWAS Ctlgrs199422199
Max Magnitude0
ClinVar
Risk rs199422199(T;T)
Alt rs199422199(T;T)
Reference rs199422199(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.197059203T>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020830.1,