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rs869025577

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869025577(C;C)
Make rs869025577(C;G)
ReferenceGRCh38.p2 38.2/147
Chromosome4
Position165341800
GeneMSMO1
is asnp
is mentioned by
dbSNPrs869025577
dbSNP (classic)rs869025577
ClinGenrs869025577
ebirs869025577
HLIrs869025577
Exacrs869025577
Gnomadrs869025577
Varsomers869025577
LitVarrs869025577
Maprs869025577
PheGenIrs869025577
Biobankrs869025577
1000 genomesrs869025577
hgdprs869025577
ensemblrs869025577
geneviewrs869025577
scholarrs869025577
googlers869025577
pharmgkbrs869025577
gwascentralrs869025577
openSNPrs869025577
23andMers869025577
SNPshotrs869025577
SNPdbers869025577
MSV3drs869025577
GWAS Ctlgrs869025577
Max Magnitude0
ClinVar
Risk rs869025577(C;C)
Alt rs869025577(C;C)
Reference Rs869025577(G;G)
Significance Pathogenic
Disease Microcephaly
Variation info
Gene MSMO1
CLNDBN Microcephaly, congenital cataract, and psoriasiform dermatitis
Reversed 0
HGVS NC_000004.11:g.166262952G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000208578.2,