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rs730880263

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730880263(A;A)
Make rs730880263(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position43049665
GeneCUL7
is asnp
is mentioned by
dbSNPrs730880263
ebirs730880263
HLIrs730880263
Exacrs730880263
Varsomers730880263
Maprs730880263
PheGenIrs730880263
hapmaprs730880263
1000 genomesrs730880263
hgdprs730880263
ensemblrs730880263
gopubmedrs730880263
geneviewrs730880263
scholarrs730880263
googlers730880263
pharmgkbrs730880263
gwascentralrs730880263
openSNPrs730880263
23andMers730880263
23andMe allrs730880263
SNP Nexus

SNPshotrs730880263
SNPdbers730880263
MSV3drs730880263
GWAS Ctlgrs730880263
Max Magnitude0
ClinVar
Risk rs730880263(A;A)
Alt rs730880263(A;A)
Reference rs730880263(C;C)
Significance Pathogenic
Disease Three M syndrome 1
Variation info
Gene CUL7
CLNDBN Three M syndrome 1
Reversed 1
HGVS NC_000006.11:g.43017403G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001686.3,