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rs121434473

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434473(A;A)
Make rs121434473(A;G)
ReferenceGRCh37.p10 37.5/138
ChromosomeMT
Position12183
GeneSMARCE1P4
is asnp
is mentioned by
dbSNPrs121434473
ebirs121434473
HLIrs121434473
Exacrs121434473
Varsomers121434473
Maprs121434473
PheGenIrs121434473
hapmaprs121434473
1000 genomesrs121434473
hgdprs121434473
ensemblrs121434473
gopubmedrs121434473
geneviewrs121434473
scholarrs121434473
googlers121434473
pharmgkbrs121434473
gwascentralrs121434473
openSNPrs121434473
23andMers121434473
23andMe allrs121434473
SNP Nexus

SNPshotrs121434473
SNPdbers121434473
MSV3drs121434473
GWAS Ctlgrs121434473
Max Magnitude0
ClinVar
Risk rs121434473(A;A)
Alt rs121434473(A;A)
Reference rs121434473(G;G)
Significance Pathogenic
Disease Pigmentary retinopathy and sensorineural deafness
Variation info
Gene
CLNDBN Pigmentary retinopathy and sensorineural deafness
Reversed 0
HGVS NC_012920.1:m.12183G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010233.5,