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rs104894675

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894675(C;T)
Make rs104894675(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position39504130
GeneDLL3
is asnp
is mentioned by
dbSNPrs104894675
ebirs104894675
HLIrs104894675
Exacrs104894675
Varsomers104894675
Maprs104894675
PheGenIrs104894675
hapmaprs104894675
1000 genomesrs104894675
hgdprs104894675
ensemblrs104894675
gopubmedrs104894675
geneviewrs104894675
scholarrs104894675
googlers104894675
pharmgkbrs104894675
gwascentralrs104894675
openSNPrs104894675
23andMers104894675
23andMe allrs104894675
SNP Nexus

SNPshotrs104894675
SNPdbers104894675
MSV3drs104894675
GWAS Ctlgrs104894675
Max Magnitude0
OMIM602768
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104894675(T;T)
Alt rs104894675(T;T)
Reference rs104894675(C;C)
Significance Pathogenic
Disease Spondylocostal dysostosis 1
Variation info
Gene DLL3
CLNDBN Spondylocostal dysostosis 1, autosomal recessive
Reversed 0
HGVS NC_000019.9:g.39994770C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007235.3,