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rs199474821

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199474821(C;C)
Make rs199474821(C;T)
ReferenceGRCh37.p10 37.5/138
ChromosomeMT
Position7511
GeneACTR6
is asnp
is mentioned by
dbSNPrs199474821
ebirs199474821
HLIrs199474821
Exacrs199474821
Varsomers199474821
Maprs199474821
PheGenIrs199474821
hapmaprs199474821
1000 genomesrs199474821
hgdprs199474821
ensemblrs199474821
gopubmedrs199474821
geneviewrs199474821
scholarrs199474821
googlers199474821
pharmgkbrs199474821
gwascentralrs199474821
openSNPrs199474821
23andMers199474821
23andMe allrs199474821
SNP Nexus

SNPshotrs199474821
SNPdbers199474821
MSV3drs199474821
GWAS Ctlgrs199474821
Max Magnitude0
ClinVar
Risk rs199474821(C;C)
Alt rs199474821(C;C)
Reference rs199474821(T;T)
Significance Pathogenic
Disease Deafness
Variation info
Gene
CLNDBN Deafness, nonsyndromic sensorineural, mitochondrial
Reversed 0
HGVS NC_012920.1:m.7511T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010180.2,