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rs199422163

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs199422163(-;-)
Make rs199422163(-;A)
Make rs199422163(A;A)
ReferenceGRCh38 38.1/141
Chromosome1
Position197105055
GeneASPM
is asnp
is mentioned by
dbSNPrs199422163
ebirs199422163
HLIrs199422163
Exacrs199422163
Varsomers199422163
Maprs199422163
PheGenIrs199422163
hapmaprs199422163
1000 genomesrs199422163
hgdprs199422163
ensemblrs199422163
gopubmedrs199422163
geneviewrs199422163
scholarrs199422163
googlers199422163
pharmgkbrs199422163
gwascentralrs199422163
openSNPrs199422163
23andMers199422163
23andMe allrs199422163
SNP Nexus

SNPshotrs199422163
SNPdbers199422163
MSV3drs199422163
GWAS Ctlgrs199422163
Max Magnitude0
ClinVar
Risk rs199422163(A;A)
Alt rs199422163(A;A)
Reference rs199422163(;)
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.197074186dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000005252.4,