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rs730882076

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730882076(C;T)
Make rs730882076(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position197101153
GeneASPM
is asnp
is mentioned by
dbSNPrs730882076
ebirs730882076
HLIrs730882076
Exacrs730882076
Varsomers730882076
Maprs730882076
PheGenIrs730882076
hapmaprs730882076
1000 genomesrs730882076
hgdprs730882076
ensemblrs730882076
gopubmedrs730882076
geneviewrs730882076
scholarrs730882076
googlers730882076
pharmgkbrs730882076
gwascentralrs730882076
openSNPrs730882076
23andMers730882076
23andMe allrs730882076
SNP Nexus

SNPshotrs730882076
SNPdbers730882076
MSV3drs730882076
GWAS Ctlgrs730882076
Max Magnitude0
ClinVar
Risk rs730882076(T;T)
Alt rs730882076(T;T)
Reference rs730882076(C;C)
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.197070283G>A
CLNSRC
CLNACC RCV000162061.1,