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

rs121964956

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121964956(A;A)
Make rs121964956(A;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position158682399
GeneETFDH
is asnp
is mentioned by
dbSNPrs121964956
ebirs121964956
HLIrs121964956
Exacrs121964956
Varsomers121964956
Maprs121964956
PheGenIrs121964956
hapmaprs121964956
1000 genomesrs121964956
hgdprs121964956
ensemblrs121964956
gopubmedrs121964956
geneviewrs121964956
scholarrs121964956
googlers121964956
pharmgkbrs121964956
gwascentralrs121964956
openSNPrs121964956
23andMers121964956
23andMe allrs121964956
SNP Nexus

SNPshotrs121964956
SNPdbers121964956
MSV3drs121964956
GWAS Ctlgrs121964956
Max Magnitude0
OMIM231675
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121964956(A;A)
Alt rs121964956(A;A)
Reference rs121964956(T;T)
Significance Pathogenic
Disease Glutaric acidemia IIC not provided
Variation info
Gene ETFDH
CLNDBN Glutaric acidemia IIC not provided
Reversed 0
HGVS NC_000004.11:g.159603551T>A; NC_000004.11:g.159603551T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012810.24, RCV000185889.2,