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rs147816470

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs147816470(A;A)
Make rs147816470(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome9
Position133352696
GeneSURF1
is asnp
is mentioned by
dbSNPrs147816470
ebirs147816470
HLIrs147816470
Exacrs147816470
Varsomers147816470
Maprs147816470
PheGenIrs147816470
hapmaprs147816470
1000 genomesrs147816470
hgdprs147816470
ensemblrs147816470
gopubmedrs147816470
geneviewrs147816470
scholarrs147816470
googlers147816470
pharmgkbrs147816470
gwascentralrs147816470
openSNPrs147816470
23andMers147816470
23andMe allrs147816470
SNP Nexus

SNPshotrs147816470
SNPdbers147816470
MSV3drs147816470
GWAS Ctlgrs147816470
Max Magnitude0
ClinVar
Risk rs147816470(A;A)
Alt rs147816470(A;A)
Reference rs147816470(G;G)
Significance Pathogenic
Disease Leigh syndrome
Variation info
Gene SURF1
CLNDBN Leigh syndrome
Reversed 0
HGVS NC_000009.11:g.136219551G>A
CLNSRC
CLNACC RCV000235079.1,