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

rs727503919

From SNPedia

Orientationplus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs727503919(-;-)
Make rs727503919(-;CT)
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position158706730
GeneETFDH
is asnp
is mentioned by
dbSNPrs727503919
ebirs727503919
HLIrs727503919
Exacrs727503919
Varsomers727503919
Maprs727503919
PheGenIrs727503919
hapmaprs727503919
1000 genomesrs727503919
hgdprs727503919
ensemblrs727503919
gopubmedrs727503919
geneviewrs727503919
scholarrs727503919
googlers727503919
pharmgkbrs727503919
gwascentralrs727503919
openSNPrs727503919
23andMers727503919
23andMe allrs727503919
SNP Nexus

SNPshotrs727503919
SNPdbers727503919
MSV3drs727503919
GWAS Ctlgrs727503919
Max Magnitude0
ClinVar
Risk rs727503919(;)
Alt rs727503919(;)
Reference rs727503919(CT;CT)
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.159627882_159627883delCT
CLNSRC
CLNACC RCV000153202.2, RCV000174332.1,