Have questions? Visit https://www.reddit.com/r/SNPedia

rs121964953

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121964953(C;C)
Make rs121964953(C;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position158672458
GeneC4orf46, ETFDH
is asnp
is mentioned by
dbSNPrs121964953
ebirs121964953
HLIrs121964953
Exacrs121964953
Varsomers121964953
Maprs121964953
PheGenIrs121964953
hapmaprs121964953
1000 genomesrs121964953
hgdprs121964953
ensemblrs121964953
gopubmedrs121964953
geneviewrs121964953
scholarrs121964953
googlers121964953
pharmgkbrs121964953
gwascentralrs121964953
openSNPrs121964953
23andMers121964953
23andMe allrs121964953
SNP Nexus

SNPshotrs121964953
SNPdbers121964953
MSV3drs121964953
GWAS Ctlgrs121964953
Max Magnitude0
OMIM231675
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121964953(C;C)
Alt rs121964953(C;C)
Reference rs121964953(T;T)
Significance Pathogenic
Disease Glutaric acidemia IIC
Variation info
Gene ETFDH C4orf46
CLNDBN Glutaric acidemia IIC
Reversed 0
HGVS NC_000004.11:g.159593610T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012806.15,