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rs199474822

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199474822(A;A)
Make rs199474822(A;G)
ReferenceGRCh38 38.1/141
ChromosomeMT
Position7444
GeneMT-ATP6
is asnp
is mentioned by
dbSNPrs199474822
ebirs199474822
HLIrs199474822
Exacrs199474822
Varsomers199474822
Maprs199474822
PheGenIrs199474822
hapmaprs199474822
1000 genomesrs199474822
hgdprs199474822
ensemblrs199474822
gopubmedrs199474822
geneviewrs199474822
scholarrs199474822
googlers199474822
pharmgkbrs199474822
gwascentralrs199474822
openSNPrs199474822
23andMers199474822
23andMe allrs199474822
SNP Nexus

SNPshotrs199474822
SNPdbers199474822
MSV3drs199474822
GWAS Ctlgrs199474822
GMAF0.002806
Max Magnitude0
ClinVar
Risk rs199474822(A;A)
Alt rs199474822(A;A)
Reference rs199474822(G;G)
Significance Pathogenic
Disease Leber's optic atrophy Aminoglycoside-induced deafness Deafness
Variation info
Gene COX1
CLNDBN Leber's optic atrophy Aminoglycoside-induced deafness Deafness, nonsyndromic sensorineural, mitochondrial
Reversed 0
HGVS NC_012920.1:m.7444G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010299.4, RCV000010300.3, RCV000010301.2,