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rs199474674

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199474674(A;A)
Make rs199474674(A;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeMT
Position5532
is asnp
is mentioned by
dbSNPrs199474674
dbSNP (classic)rs199474674
ClinGenrs199474674
ebirs199474674
HLIrs199474674
Exacrs199474674
Gnomadrs199474674
Varsomers199474674
LitVarrs199474674
Maprs199474674
PheGenIrs199474674
Biobankrs199474674
1000 genomesrs199474674
hgdprs199474674
ensemblrs199474674
geneviewrs199474674
scholarrs199474674
googlers199474674
pharmgkbrs199474674
gwascentralrs199474674
openSNPrs199474674
23andMers199474674
SNPshotrs199474674
SNPdbers199474674
MSV3drs199474674
GWAS Ctlgrs199474674
Max Magnitude0
ClinVar
Risk rs199474674(A;A)
Alt rs199474674(A;A)
Reference Rs199474674(G;G)
Significance Pathogenic
Disease Neurogastrointestinal syndrome
Variation info
Gene
CLNDBN Neurogastrointestinal syndrome, mitochondrial
Reversed 0
HGVS NC_012920.1:m.5532G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010167.4,