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rs796065348

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs796065348(C;T)
Make rs796065348(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position40931664
GeneDLL4
is asnp
is mentioned by
dbSNPrs796065348
dbSNP (classic)rs796065348
ClinGenrs796065348
ebirs796065348
HLIrs796065348
Exacrs796065348
Gnomadrs796065348
Varsomers796065348
LitVarrs796065348
Maprs796065348
PheGenIrs796065348
Biobankrs796065348
1000 genomesrs796065348
hgdprs796065348
ensemblrs796065348
geneviewrs796065348
scholarrs796065348
googlers796065348
pharmgkbrs796065348
gwascentralrs796065348
openSNPrs796065348
23andMers796065348
SNPshotrs796065348
SNPdbers796065348
MSV3drs796065348
GWAS Ctlgrs796065348
Max Magnitude0
ClinVar
Risk rs796065348(T;T)
Alt rs796065348(T;T)
Reference Rs796065348(C;C)
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.41223862C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000190439.1, RCV000195285.3,