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rs145489194

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs145489194(C;C)
Make rs145489194(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position197133380
GeneASPM
is asnp
is mentioned by
dbSNPrs145489194
ebirs145489194
HLIrs145489194
Exacrs145489194
Varsomers145489194
Maprs145489194
PheGenIrs145489194
hapmaprs145489194
1000 genomesrs145489194
hgdprs145489194
ensemblrs145489194
gopubmedrs145489194
geneviewrs145489194
scholarrs145489194
googlers145489194
pharmgkbrs145489194
gwascentralrs145489194
openSNPrs145489194
23andMers145489194
23andMe allrs145489194
SNP Nexus

SNPshotrs145489194
SNPdbers145489194
MSV3drs145489194
GWAS Ctlgrs145489194
Max Magnitude0
ClinVar
Risk rs145489194(A,C;A,C)
Alt rs145489194(A,C;A,C)
Reference rs145489194(G;G)
Significance Pathogenic
Disease Primary autosomal recessive microcephaly 5
Variation info
Gene ASPM
CLNDBN Primary autosomal recessive microcephaly 5
Reversed 0
HGVS NC_000001.10:g.197102510G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005253.4,