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rs387906886

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906886(C;T)
Make rs387906886(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position137101088
GeneMAN1B1
is asnp
is mentioned by
dbSNPrs387906886
ebirs387906886
HLIrs387906886
Exacrs387906886
Varsomers387906886
Maprs387906886
PheGenIrs387906886
hapmaprs387906886
1000 genomesrs387906886
hgdprs387906886
ensemblrs387906886
gopubmedrs387906886
geneviewrs387906886
scholarrs387906886
googlers387906886
pharmgkbrs387906886
gwascentralrs387906886
openSNPrs387906886
23andMers387906886
23andMe allrs387906886
SNP Nexus

SNPshotrs387906886
SNPdbers387906886
MSV3drs387906886
GWAS Ctlgrs387906886
Max Magnitude0
ClinVar
Risk rs387906886(T;T)
Alt rs387906886(T;T)
Reference Rs387906886(C;C)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene MAN1B1
CLNDBN Mental retardation, autosomal recessive 15
Reversed 0
HGVS NC_000009.11:g.139995540C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000023368.2,