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rs797045313

From SNPedia

Orientationminus
Make rs797045313(-;-)
Make rs797045313(-;AAGT)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position197124104
GeneASPM
is asnp
is mentioned by
dbSNPrs797045313
ebirs797045313
HLIrs797045313
Exacrs797045313
Varsomers797045313
Maprs797045313
PheGenIrs797045313
hapmaprs797045313
1000 genomesrs797045313
hgdprs797045313
ensemblrs797045313
gopubmedrs797045313
geneviewrs797045313
scholarrs797045313
googlers797045313
pharmgkbrs797045313
gwascentralrs797045313
openSNPrs797045313
23andMers797045313
23andMe allrs797045313
SNP Nexus

SNPshotrs797045313
SNPdbers797045313
MSV3drs797045313
GWAS Ctlgrs797045313
Max Magnitude
ClinVar
Risk rs797045313(;)
Alt rs797045313(;)
Reference rs797045313(AAGT;AAGT)
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.197093234_197093237delACTT
CLNSRC
CLNACC RCV000194147.1,