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rs199474820

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199474820(C;C)
Make rs199474820(C;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeMT
Position7510
is asnp
is mentioned by
dbSNPrs199474820
dbSNP (classic)rs199474820
ClinGenrs199474820
ebirs199474820
HLIrs199474820
Exacrs199474820
Gnomadrs199474820
Varsomers199474820
LitVarrs199474820
Maprs199474820
PheGenIrs199474820
Biobankrs199474820
1000 genomesrs199474820
hgdprs199474820
ensemblrs199474820
geneviewrs199474820
scholarrs199474820
googlers199474820
pharmgkbrs199474820
gwascentralrs199474820
openSNPrs199474820
23andMers199474820
SNPshotrs199474820
SNPdbers199474820
MSV3drs199474820
GWAS Ctlgrs199474820
Max Magnitude0
ClinVar
Risk rs199474820(C;C)
Alt rs199474820(C;C)
Reference Rs199474820(T;T)
Significance Pathogenic
Disease Deafness
Variation info
Gene
CLNDBN Deafness, nonsyndromic sensorineural, mitochondrial
Reversed 0
HGVS NC_012920.1:m.7510T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010179.2,