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rs398124152

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398124152(C;T)
Make rs398124152(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position158706270
GeneETFDH
is asnp
is mentioned by
dbSNPrs398124152
ebirs398124152
HLIrs398124152
Exacrs398124152
Varsomers398124152
Maprs398124152
PheGenIrs398124152
hapmaprs398124152
1000 genomesrs398124152
hgdprs398124152
ensemblrs398124152
gopubmedrs398124152
geneviewrs398124152
scholarrs398124152
googlers398124152
pharmgkbrs398124152
gwascentralrs398124152
openSNPrs398124152
23andMers398124152
23andMe allrs398124152
SNP Nexus

SNPshotrs398124152
SNPdbers398124152
MSV3drs398124152
GWAS Ctlgrs398124152
Max Magnitude0
ClinVar
Risk rs398124152(T;T)
Alt rs398124152(T;T)
Reference rs398124152(C;C)
Significance Pathogenic
Disease not provided Glutaric aciduria
Variation info
Gene ETFDH
CLNDBN not provided Glutaric aciduria, type 2
Reversed 0
HGVS NC_000004.11:g.159627422C>T
CLNSRC HGMD
CLNACC RCV000081077.4, RCV000174102.1, RCV000198866.1,