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rs104894674

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894674(A;A)
Make rs104894674(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position39507099
GeneDLL3
is asnp
is mentioned by
dbSNPrs104894674
ebirs104894674
HLIrs104894674
Exacrs104894674
Varsomers104894674
Maprs104894674
PheGenIrs104894674
hapmaprs104894674
1000 genomesrs104894674
hgdprs104894674
ensemblrs104894674
gopubmedrs104894674
geneviewrs104894674
scholarrs104894674
googlers104894674
pharmgkbrs104894674
gwascentralrs104894674
openSNPrs104894674
23andMers104894674
23andMe allrs104894674
SNP Nexus

SNPshotrs104894674
SNPdbers104894674
MSV3drs104894674
GWAS Ctlgrs104894674
Max Magnitude0
OMIM602768
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894674(A;A)
Alt rs104894674(A;A)
Reference rs104894674(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.39997739G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007232.3,