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rs387906733

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906733(C;C)
Make rs387906733(C;T)
ReferenceGRCh37.p10 37.5/138
ChromosomeMT
Position12201
GeneSMARCE1P4
is asnp
is mentioned by
dbSNPrs387906733
ebirs387906733
HLIrs387906733
Exacrs387906733
Varsomers387906733
Maprs387906733
PheGenIrs387906733
hapmaprs387906733
1000 genomesrs387906733
hgdprs387906733
ensemblrs387906733
gopubmedrs387906733
geneviewrs387906733
scholarrs387906733
googlers387906733
pharmgkbrs387906733
gwascentralrs387906733
openSNPrs387906733
23andMers387906733
23andMe allrs387906733
SNP Nexus

SNPshotrs387906733
SNPdbers387906733
MSV3drs387906733
GWAS Ctlgrs387906733
Max Magnitude0
ClinVar
Risk rs387906733(C;C)
Alt rs387906733(C;C)
Reference rs387906733(T;T)
Significance Pathogenic
Disease Deafness
Variation info
Gene
CLNDBN Deafness, nonsyndromic sensorineural, mitochondrial
Reversed 0
HGVS NC_012920.1:m.12201T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000022899.2,