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rs199422160

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199422160(A;A)
Make rs199422160(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position197122158
GeneASPM
is asnp
is mentioned by
dbSNPrs199422160
ebirs199422160
HLIrs199422160
Exacrs199422160
Varsomers199422160
Maprs199422160
PheGenIrs199422160
hapmaprs199422160
1000 genomesrs199422160
hgdprs199422160
ensemblrs199422160
gopubmedrs199422160
geneviewrs199422160
scholarrs199422160
googlers199422160
pharmgkbrs199422160
gwascentralrs199422160
openSNPrs199422160
23andMers199422160
23andMe allrs199422160
SNP Nexus

SNPshotrs199422160
SNPdbers199422160
MSV3drs199422160
GWAS Ctlgrs199422160
Max Magnitude0
ClinVar
Risk rs199422160(A;A)
Alt rs199422160(A;A)
Reference rs199422160(G;G)
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.197091288C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020771.1,