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rs1057516714

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TCTG;TCTG) 0 common in clinvar
Make rs1057516714(-;-)
Make rs1057516714(-;GTCT)
Make rs1057516714(GTCT;GTCT)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position7221973
GeneACADVL, DLG4
is asnp
is mentioned by
dbSNPrs1057516714
dbSNP (classic)rs1057516714
ClinGenrs1057516714
ebirs1057516714
HLIrs1057516714
Exacrs1057516714
Gnomadrs1057516714
Varsomers1057516714
LitVarrs1057516714
Maprs1057516714
PheGenIrs1057516714
Biobankrs1057516714
1000 genomesrs1057516714
hgdprs1057516714
ensemblrs1057516714
geneviewrs1057516714
scholarrs1057516714
googlers1057516714
pharmgkbrs1057516714
gwascentralrs1057516714
openSNPrs1057516714
23andMers1057516714
23andMe allrs1057516714
SNPshotrs1057516714
SNPdbers1057516714
MSV3drs1057516714
GWAS Ctlgrs1057516714
Max Magnitude0
ClinVar
Risk rs1057516714(-;-)
Alt rs1057516714(-;-)
Reference Rs1057516714(TCTG;TCTG)
Significance Probable-Pathogenic
Disease Very long chain acyl-CoA dehydrogenase deficiency
Variation info
Gene DLG4 ACADVL
CLNDBN Very long chain acyl-CoA dehydrogenase deficiency
Reversed 0
HGVS NC_000017.10:g.7125292_7125295delGTCT
CLNSRC
CLNACC RCV000410797.1,