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rs199422189

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422189(C;G)
Make rs199422189(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position197090929
GeneASPM
is asnp
is mentioned by
dbSNPrs199422189
ebirs199422189
HLIrs199422189
Exacrs199422189
Varsomers199422189
Maprs199422189
PheGenIrs199422189
hapmaprs199422189
1000 genomesrs199422189
hgdprs199422189
ensemblrs199422189
gopubmedrs199422189
geneviewrs199422189
scholarrs199422189
googlers199422189
pharmgkbrs199422189
gwascentralrs199422189
openSNPrs199422189
23andMers199422189
23andMe allrs199422189
SNP Nexus

SNPshotrs199422189
SNPdbers199422189
MSV3drs199422189
GWAS Ctlgrs199422189
Max Magnitude0
ClinVar
Risk rs199422189(G;G)
Alt rs199422189(G;G)
Reference rs199422189(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.197060059G>C
CLNSRC ClinVar GeneReviews University of Chicago
CLNACC RCV000020819.2,