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rs199474819

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(A;A) 0 common in clinvar
Make rs199474819(AA;AA)
Make rs199474819(AA;C)
Make rs199474819(C;C)
ReferenceGRCh37.p10 37.5/138
ChromosomeMT
Position7472
GeneACTR6
is asnp
is mentioned by
dbSNPrs199474819
ebirs199474819
HLIrs199474819
Exacrs199474819
Varsomers199474819
Maprs199474819
PheGenIrs199474819
hapmaprs199474819
1000 genomesrs199474819
hgdprs199474819
ensemblrs199474819
gopubmedrs199474819
geneviewrs199474819
scholarrs199474819
googlers199474819
pharmgkbrs199474819
gwascentralrs199474819
openSNPrs199474819
23andMers199474819
23andMe allrs199474819
SNP Nexus

SNPshotrs199474819
SNPdbers199474819
MSV3drs199474819
GWAS Ctlgrs199474819
Max Magnitude0
ClinVar
Risk rs199474819(C;C)
Alt rs199474819(C;C)
Reference rs199474819(A;A)
Significance Pathogenic
Disease Mitochondrial cytochrome c oxidase deficiency DEAFNESS Deafness
Variation info
Gene
CLNDBN Mitochondrial cytochrome c oxidase deficiency DEAFNESS, SENSORINEURAL, WITH NEUROLOGIC FEATURES Deafness, nonsyndromic sensorineural, mitochondrial
Reversed 0
HGVS NC_012920.1:m.7472_7473insC
CLNSRC OMIM Allelic Variant
CLNACC RCV000010178.1, RCV000022905.1, RCV000022906.3,