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rs869025576

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs869025576(A;A)
Make rs869025576(A;T)
ReferenceGRCh38.p2 38.2/147
Chromosome4
Position165338766
GeneMSMO1
is asnp
is mentioned by
dbSNPrs869025576
dbSNP (classic)rs869025576
ClinGenrs869025576
ebirs869025576
HLIrs869025576
Exacrs869025576
Gnomadrs869025576
Varsomers869025576
LitVarrs869025576
Maprs869025576
PheGenIrs869025576
Biobankrs869025576
1000 genomesrs869025576
hgdprs869025576
ensemblrs869025576
geneviewrs869025576
scholarrs869025576
googlers869025576
pharmgkbrs869025576
gwascentralrs869025576
openSNPrs869025576
23andMers869025576
SNPshotrs869025576
SNPdbers869025576
MSV3drs869025576
GWAS Ctlgrs869025576
Max Magnitude0
ClinVar
Risk rs869025576(A;A)
Alt rs869025576(A;A)
Reference Rs869025576(T;T)
Significance Pathogenic
Disease Microcephaly
Variation info
Gene MSMO1
CLNDBN Microcephaly, congenital cataract, and psoriasiform dermatitis
Reversed 0
HGVS NC_000004.11:g.166259918T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000208581.1,