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rs387906730

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906730(A;A)
Make rs387906730(A;C)
ReferenceGRCh38.p7 38.3/150
ChromosomeMT
Position3388
GeneND1
is asnp
is mentioned by
dbSNPrs387906730
dbSNP (classic)rs387906730
ClinGenrs387906730
ebirs387906730
HLIrs387906730
Exacrs387906730
Gnomadrs387906730
Varsomers387906730
LitVarrs387906730
Maprs387906730
PheGenIrs387906730
Biobankrs387906730
1000 genomesrs387906730
hgdprs387906730
ensemblrs387906730
geneviewrs387906730
scholarrs387906730
googlers387906730
pharmgkbrs387906730
gwascentralrs387906730
openSNPrs387906730
23andMers387906730
SNPshotrs387906730
SNPdbers387906730
MSV3drs387906730
GWAS Ctlgrs387906730
Max Magnitude0
ClinVar
Risk rs387906730(A;A)
Alt rs387906730(A;A)
Reference Rs387906730(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene ND1
CLNDBN Deafness, nonsyndromic sensorineural, mitochondrial
Reversed 0
HGVS NC_012920.1:m.3388C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000022892.2,