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rs1057518506

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTGGTGGAGC;CTGGTGGAGC) 0 common in clinvar
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position7220804
GeneACADVL, DLG4
is asnp
is mentioned by
dbSNPrs1057518506
dbSNP (classic)rs1057518506
ClinGenrs1057518506
ebirs1057518506
HLIrs1057518506
Exacrs1057518506
Gnomadrs1057518506
Varsomers1057518506
LitVarrs1057518506
Maprs1057518506
PheGenIrs1057518506
Biobankrs1057518506
1000 genomesrs1057518506
hgdprs1057518506
ensemblrs1057518506
geneviewrs1057518506
scholarrs1057518506
googlers1057518506
pharmgkbrs1057518506
gwascentralrs1057518506
openSNPrs1057518506
23andMers1057518506
SNPshotrs1057518506
SNPdbers1057518506
MSV3drs1057518506
GWAS Ctlgrs1057518506
Max Magnitude0
ClinVar
Risk rs1057518506(-;-)
Alt rs1057518506(-;-)
Reference Rs1057518506(CTGGTGGAGC;CTGGTGGAGC)
Significance Pathogenic
Disease not provided
Variation info
Gene DLG4 ACADVL
CLNDBN not provided
Reversed 0
HGVS NC_000017.10:g.7124123_7124132delGTGGAGCCTG
CLNSRC
CLNACC RCV000412713.1,