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rs387907012

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387907012(C;C)
Make rs387907012(C;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position47156193
GeneIER3IP1
is asnp
is mentioned by
dbSNPrs387907012
ebirs387907012
HLIrs387907012
Exacrs387907012
Varsomers387907012
Maprs387907012
PheGenIrs387907012
hapmaprs387907012
1000 genomesrs387907012
hgdprs387907012
ensemblrs387907012
gopubmedrs387907012
geneviewrs387907012
scholarrs387907012
googlers387907012
pharmgkbrs387907012
gwascentralrs387907012
openSNPrs387907012
23andMers387907012
23andMe allrs387907012
SNP Nexus

SNPshotrs387907012
SNPdbers387907012
MSV3drs387907012
GWAS Ctlgrs387907012
Max Magnitude0
ClinVar
Risk rs387907012(C;C)
Alt rs387907012(C;C)
Reference rs387907012(T;T)
Significance Pathogenic
Disease Microcephaly
Variation info
Gene IER3IP1
CLNDBN Microcephaly, epilepsy, and diabetes syndrome
Reversed 1
HGVS NC_000018.9:g.44682564A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000023768.3,