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rs786205666

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs786205666(G;G)
Make rs786205666(G;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position206145006
GeneNDUFS1
is asnp
is mentioned by
dbSNPrs786205666
ebirs786205666
HLIrs786205666
Exacrs786205666
Varsomers786205666
Maprs786205666
PheGenIrs786205666
hapmaprs786205666
1000 genomesrs786205666
hgdprs786205666
ensemblrs786205666
gopubmedrs786205666
geneviewrs786205666
scholarrs786205666
googlers786205666
pharmgkbrs786205666
gwascentralrs786205666
openSNPrs786205666
23andMers786205666
23andMe allrs786205666
SNP Nexus

SNPshotrs786205666
SNPdbers786205666
MSV3drs786205666
GWAS Ctlgrs786205666
Max Magnitude0
ClinVar
Risk rs786205666(G;G)
Alt rs786205666(G;G)
Reference rs786205666(T;T)
Significance Probable-Pathogenic
Disease Juvenile myopathy
Variation info
Gene NDUFS1
CLNDBN Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Reversed 1
HGVS NC_000002.11:g.207009730A>C
CLNSRC
CLNACC RCV000170569.1,