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rs529232938

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs529232938(A;A)
Make rs529232938(A;G)
ReferenceGRCh38 38.1/142
Chromosome6
Position158150516
GeneSERAC1
is asnp
is mentioned by
dbSNPrs529232938
ebirs529232938
HLIrs529232938
Exacrs529232938
Varsomers529232938
Maprs529232938
PheGenIrs529232938
hapmaprs529232938
1000 genomesrs529232938
hgdprs529232938
ensemblrs529232938
gopubmedrs529232938
geneviewrs529232938
scholarrs529232938
googlers529232938
pharmgkbrs529232938
gwascentralrs529232938
openSNPrs529232938
23andMers529232938
23andMe allrs529232938
SNP Nexus

SNPshotrs529232938
SNPdbers529232938
MSV3drs529232938
GWAS Ctlgrs529232938
Max Magnitude0
ClinVar
Risk rs529232938(A;A)
Alt rs529232938(A;A)
Reference rs529232938(G;G)
Significance Pathogenic
Disease 3-methylglutaconic aciduria with deafness
Variation info
Gene SERAC1
CLNDBN 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
Reversed 0
HGVS NC_000006.11:g.158571548G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000106307.2,