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rs199476133

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199476133(G;G)
Make rs199476133(G;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeMT
Position8993
GeneATP6
is asnp
is mentioned by
dbSNPrs199476133
dbSNP (old)rs199476133
ClinGenrs199476133
ebirs199476133
HLIrs199476133
Exacrs199476133
Gnomadrs199476133
Varsomers199476133
Maprs199476133
PheGenIrs199476133
Biobankrs199476133
1000 genomesrs199476133
hgdprs199476133
ensemblrs199476133
gopubmedrs199476133
geneviewrs199476133
scholarrs199476133
googlers199476133
pharmgkbrs199476133
gwascentralrs199476133
openSNPrs199476133
23andMers199476133
23andMe allrs199476133
SNP Nexus

SNPshotrs199476133
SNPdbers199476133
MSV3drs199476133
GWAS Ctlgrs199476133
Max Magnitude0
ClinVar
Risk rs199476133(C;C) rs199476133(G;G)
Alt rs199476133(C;C) rs199476133(G;G)
Reference Rs199476133(T;T)
Significance Pathogenic
Disease Leigh syndrome Ataxia and polyneuropathy Neuropathy ataxia retinitis pigmentosa syndrome Ataxia not provided Bilateral cleft lip and palate Camptodactyly of finger Hypertelorism Low-set ears Postaxial hand polydactyly Premature birth Scrotal hypoplasia Wide intermamillary distance
Variation info
Gene ATP6
CLNDBN Leigh syndrome Ataxia and polyneuropathy, adult-onset Neuropathy ataxia retinitis pigmentosa syndrome Ataxia not provided Bilateral cleft lip and palate Camptodactyly of finger Hypertelorism Low-set ears Postaxial hand polydactyly Premature birth Scrotal hypoplasia Wide intermamillary distance
Reversed 0
HGVS NC_012920.1:m.8993T>C; NC_012920.1:m.8993T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000010275.5, RCV000010276.4, RCV000010273.3, RCV000010274.2, RCV000191106.1, RCV000224643.1, RCV000414771.1,