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rs199476139

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs199476139(-;-)
Make rs199476139(-;T)
Make rs199476139(T;T)
ReferenceGRCh38 38.1/141
ChromosomeMT
Position8616
GeneMT-ATP6
is asnp
is mentioned by
dbSNPrs199476139
ebirs199476139
HLIrs199476139
Exacrs199476139
Varsomers199476139
Maprs199476139
PheGenIrs199476139
hapmaprs199476139
1000 genomesrs199476139
hgdprs199476139
ensemblrs199476139
gopubmedrs199476139
geneviewrs199476139
scholarrs199476139
googlers199476139
pharmgkbrs199476139
gwascentralrs199476139
openSNPrs199476139
23andMers199476139
23andMe allrs199476139
SNP Nexus

SNPshotrs199476139
SNPdbers199476139
MSV3drs199476139
GWAS Ctlgrs199476139
Max Magnitude0
ClinVar
Risk rs199476139(T;T)
Alt rs199476139(T;T)
Reference rs199476139(;)
Significance Pathogenic
Disease Neuropathy ataxia retinitis pigmentosa syndrome
Variation info
Gene
CLNDBN Neuropathy ataxia retinitis pigmentosa syndrome
Reversed 0
HGVS NC_012920.1:m.8616_8617insT
CLNSRC OMIM Allelic Variant
CLNACC RCV000010283.3,