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rs104894676

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894676(A;A)
Make rs104894676(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position39507456
GeneDLL3
is asnp
is mentioned by
dbSNPrs104894676
dbSNP (classic)rs104894676
ClinGenrs104894676
ebirs104894676
HLIrs104894676
Exacrs104894676
Gnomadrs104894676
Varsomers104894676
LitVarrs104894676
Maprs104894676
PheGenIrs104894676
Biobankrs104894676
1000 genomesrs104894676
hgdprs104894676
ensemblrs104894676
geneviewrs104894676
scholarrs104894676
googlers104894676
pharmgkbrs104894676
gwascentralrs104894676
openSNPrs104894676
23andMers104894676
SNPshotrs104894676
SNPdbers104894676
MSV3drs104894676
GWAS Ctlgrs104894676
Max Magnitude0
OMIM602768
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104894676(A;A)
Alt rs104894676(A;A)
Reference Rs104894676(G;G)
Significance Pathogenic
Disease Spondylocostal dysostosis 1
Variation info
Gene DLL3
CLNDBN Spondylocostal dysostosis 1, autosomal recessive
Reversed 0
HGVS NC_000019.9:g.39998096G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007237.3,