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rs1060499757

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GA;GA) 0 common in clinvar
Make rs1060499757(-;-)
Make rs1060499757(-;GA)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position197101677
GeneASPM
is asnp
is mentioned by
dbSNPrs1060499757
dbSNP (classic)rs1060499757
ClinGenrs1060499757
ebirs1060499757
HLIrs1060499757
Exacrs1060499757
Gnomadrs1060499757
Varsomers1060499757
LitVarrs1060499757
Maprs1060499757
PheGenIrs1060499757
Biobankrs1060499757
1000 genomesrs1060499757
hgdprs1060499757
ensemblrs1060499757
geneviewrs1060499757
scholarrs1060499757
googlers1060499757
pharmgkbrs1060499757
gwascentralrs1060499757
openSNPrs1060499757
23andMers1060499757
SNPshotrs1060499757
SNPdbers1060499757
MSV3drs1060499757
GWAS Ctlgrs1060499757
Max Magnitude0
ClinVar
Risk rs1060499757(-;-)
Alt rs1060499757(-;-)
Reference Rs1060499757(GA;GA)
Significance Probable-Pathogenic
Disease Microcephaly
Variation info
Gene ASPM
CLNDBN Microcephaly
Reversed 1
HGVS NC_000001.10:g.197070807_197070808delTC
CLNSRC
CLNACC RCV000454355.1,