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rs760048191

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs760048191(A;G)
Make rs760048191(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position165341795
GeneMSMO1
is asnp
is mentioned by
dbSNPrs760048191
ebirs760048191
HLIrs760048191
Exacrs760048191
Varsomers760048191
Maprs760048191
PheGenIrs760048191
hapmaprs760048191
1000 genomesrs760048191
hgdprs760048191
ensemblrs760048191
gopubmedrs760048191
geneviewrs760048191
scholarrs760048191
googlers760048191
pharmgkbrs760048191
gwascentralrs760048191
openSNPrs760048191
23andMers760048191
23andMe allrs760048191
SNP Nexus

SNPshotrs760048191
SNPdbers760048191
MSV3drs760048191
GWAS Ctlgrs760048191
Max Magnitude0
ClinVar
Risk rs760048191(G;G)
Alt rs760048191(G;G)
Reference rs760048191(A;A)
Significance Pathogenic
Disease Microcephaly
Variation info
Gene MSMO1
CLNDBN Microcephaly, congenital cataract, and psoriasiform dermatitis
Reversed 0
HGVS NC_000004.11:g.166262947A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000208576.1,