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rs767000507

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs767000507(C;C)
Make rs767000507(C;G)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position108567650
GeneISCU
is asnp
is mentioned by
dbSNPrs767000507
ebirs767000507
HLIrs767000507
Exacrs767000507
Varsomers767000507
Maprs767000507
PheGenIrs767000507
hapmaprs767000507
1000 genomesrs767000507
hgdprs767000507
ensemblrs767000507
gopubmedrs767000507
geneviewrs767000507
scholarrs767000507
googlers767000507
pharmgkbrs767000507
gwascentralrs767000507
openSNPrs767000507
23andMers767000507
23andMe allrs767000507
SNP Nexus

SNPshotrs767000507
SNPdbers767000507
MSV3drs767000507
GWAS Ctlgrs767000507
Max Magnitude0
ClinVar
Risk rs767000507(C;C)
Alt rs767000507(C;C)
Reference rs767000507(G;G)
Significance Pathogenic
Disease Myopathy with lactic acidosis
Variation info
Gene ISCU
CLNDBN Myopathy with lactic acidosis, hereditary
Reversed 0
HGVS NC_000012.11:g.108961426G>C
CLNSRC
CLNACC RCV000208760.1,