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rs199422186

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199422186(A;T)
Make rs199422186(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position197093108
GeneASPM
is asnp
is mentioned by
dbSNPrs199422186
ebirs199422186
HLIrs199422186
Exacrs199422186
Varsomers199422186
Maprs199422186
PheGenIrs199422186
hapmaprs199422186
1000 genomesrs199422186
hgdprs199422186
ensemblrs199422186
gopubmedrs199422186
geneviewrs199422186
scholarrs199422186
googlers199422186
pharmgkbrs199422186
gwascentralrs199422186
openSNPrs199422186
23andMers199422186
23andMe allrs199422186
SNP Nexus

SNPshotrs199422186
SNPdbers199422186
MSV3drs199422186
GWAS Ctlgrs199422186
Max Magnitude0
ClinVar
Risk rs199422186(T;T)
Alt rs199422186(T;T)
Reference rs199422186(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.197062238T>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020812.1,