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rs387907011

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387907011(G;G)
Make rs387907011(G;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position47176216
GeneIER3IP1
is asnp
is mentioned by
dbSNPrs387907011
ebirs387907011
HLIrs387907011
Exacrs387907011
Varsomers387907011
Maprs387907011
PheGenIrs387907011
hapmaprs387907011
1000 genomesrs387907011
hgdprs387907011
ensemblrs387907011
gopubmedrs387907011
geneviewrs387907011
scholarrs387907011
googlers387907011
pharmgkbrs387907011
gwascentralrs387907011
openSNPrs387907011
23andMers387907011
23andMe allrs387907011
SNP Nexus

SNPshotrs387907011
SNPdbers387907011
MSV3drs387907011
GWAS Ctlgrs387907011
Max Magnitude0
ClinVar
Risk rs387907011(G;G)
Alt rs387907011(G;G)
Reference rs387907011(T;T)
Significance Pathogenic
Disease Microcephaly
Variation info
Gene IER3IP1
CLNDBN Microcephaly, epilepsy, and diabetes syndrome
Reversed 1
HGVS NC_000018.9:g.44702587A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000023767.3,