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rs199422187

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422187(C;T)
Make rs199422187(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position197092032
GeneASPM
is asnp
is mentioned by
dbSNPrs199422187
ebirs199422187
HLIrs199422187
Exacrs199422187
Varsomers199422187
Maprs199422187
PheGenIrs199422187
hapmaprs199422187
1000 genomesrs199422187
hgdprs199422187
ensemblrs199422187
gopubmedrs199422187
geneviewrs199422187
scholarrs199422187
googlers199422187
pharmgkbrs199422187
gwascentralrs199422187
openSNPrs199422187
23andMers199422187
23andMe allrs199422187
SNP Nexus

SNPshotrs199422187
SNPdbers199422187
MSV3drs199422187
GWAS Ctlgrs199422187
Max Magnitude0
ClinVar
Risk rs199422187(T;T)
Alt rs199422187(T;T)
Reference rs199422187(C;C)
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.197061162G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020813.1,