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rs193251130

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs193251130(G;G)
Make rs193251130(G;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position197090947
GeneASPM
is asnp
is mentioned by
dbSNPrs193251130
ebirs193251130
HLIrs193251130
Exacrs193251130
Varsomers193251130
Maprs193251130
PheGenIrs193251130
hapmaprs193251130
1000 genomesrs193251130
hgdprs193251130
ensemblrs193251130
gopubmedrs193251130
geneviewrs193251130
scholarrs193251130
googlers193251130
pharmgkbrs193251130
gwascentralrs193251130
openSNPrs193251130
23andMers193251130
23andMe allrs193251130
SNP Nexus

SNPshotrs193251130
SNPdbers193251130
MSV3drs193251130
GWAS Ctlgrs193251130
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs193251130(G;G)
Alt rs193251130(G;G)
Reference rs193251130(T;T)
Significance Other
Disease Primary autosomal recessive microcephaly 5 not provided
Variation info
Gene ASPM
CLNDBN Primary autosomal recessive microcephaly 5 not provided
Reversed 0
HGVS NC_000001.10:g.197060077T>G
CLNSRC HGMD
CLNACC RCV000020818.3, RCV000152802.3,