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rs796065350

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs796065350(C;C)
Make rs796065350(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position40930649
GeneDLL4
is asnp
is mentioned by
dbSNPrs796065350
dbSNP (classic)rs796065350
ClinGenrs796065350
ebirs796065350
HLIrs796065350
Exacrs796065350
Gnomadrs796065350
Varsomers796065350
LitVarrs796065350
Maprs796065350
PheGenIrs796065350
Biobankrs796065350
1000 genomesrs796065350
hgdprs796065350
ensemblrs796065350
geneviewrs796065350
scholarrs796065350
googlers796065350
pharmgkbrs796065350
gwascentralrs796065350
openSNPrs796065350
23andMers796065350
SNPshotrs796065350
SNPdbers796065350
MSV3drs796065350
GWAS Ctlgrs796065350
Max Magnitude0
ClinVar
Risk rs796065350(C;C)
Alt rs796065350(C;C)
Reference Rs796065350(G;G)
Significance Pathogenic
Disease Adams-Oliver syndrome Adams-Oliver syndrome 6
Variation info
Gene DLL4
CLNDBN Adams-Oliver syndrome Adams-Oliver syndrome 6
Reversed 0
HGVS NC_000015.9:g.41222847G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000190441.1, RCV000195289.3,