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rs387907236

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907236(C;T)
Make rs387907236(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position158146827
GeneSERAC1
is asnp
is mentioned by
dbSNPrs387907236
ebirs387907236
HLIrs387907236
Exacrs387907236
Varsomers387907236
Maprs387907236
PheGenIrs387907236
hapmaprs387907236
1000 genomesrs387907236
hgdprs387907236
ensemblrs387907236
gopubmedrs387907236
geneviewrs387907236
scholarrs387907236
googlers387907236
pharmgkbrs387907236
gwascentralrs387907236
openSNPrs387907236
23andMers387907236
23andMe allrs387907236
SNP Nexus

SNPshotrs387907236
SNPdbers387907236
MSV3drs387907236
GWAS Ctlgrs387907236
Max Magnitude0
ClinVar
Risk rs387907236(T;T)
Alt rs387907236(T;T)
Reference rs387907236(C;C)
Significance Pathogenic
Disease 3-methylglutaconic aciduria with deafness
Variation info
Gene SERAC1
CLNDBN 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
Reversed 1
HGVS NC_000006.11:g.158567859G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000029218.2,