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rs796065344

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs796065344(C;T)
Make rs796065344(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position40936647
GeneDLL4
is asnp
is mentioned by
dbSNPrs796065344
dbSNP (classic)rs796065344
ClinGenrs796065344
ebirs796065344
HLIrs796065344
Exacrs796065344
Gnomadrs796065344
Varsomers796065344
LitVarrs796065344
Maprs796065344
PheGenIrs796065344
Biobankrs796065344
1000 genomesrs796065344
hgdprs796065344
ensemblrs796065344
geneviewrs796065344
scholarrs796065344
googlers796065344
pharmgkbrs796065344
gwascentralrs796065344
openSNPrs796065344
23andMers796065344
SNPshotrs796065344
SNPdbers796065344
MSV3drs796065344
GWAS Ctlgrs796065344
Max Magnitude0
ClinVar
Risk rs796065344(T;T)
Alt rs796065344(T;T)
Reference Rs796065344(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.41228845C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000190434.1, RCV000195286.3,