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rs199422149

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199422149(A;G)
Make rs199422149(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position197128690
GeneASPM
is asnp
is mentioned by
dbSNPrs199422149
ebirs199422149
HLIrs199422149
Exacrs199422149
Varsomers199422149
Maprs199422149
PheGenIrs199422149
hapmaprs199422149
1000 genomesrs199422149
hgdprs199422149
ensemblrs199422149
gopubmedrs199422149
geneviewrs199422149
scholarrs199422149
googlers199422149
pharmgkbrs199422149
gwascentralrs199422149
openSNPrs199422149
23andMers199422149
23andMe allrs199422149
SNP Nexus

SNPshotrs199422149
SNPdbers199422149
MSV3drs199422149
GWAS Ctlgrs199422149
Max Magnitude0
ClinVar
Risk rs199422149(G;G)
Alt rs199422149(G;G)
Reference rs199422149(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.197097820T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000020755.1,