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rs864309521

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs864309521(C;C)
Make rs864309521(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position43043631
GeneCUL7
is asnp
is mentioned by
dbSNPrs864309521
dbSNP (classic)rs864309521
ClinGenrs864309521
ebirs864309521
HLIrs864309521
Exacrs864309521
Gnomadrs864309521
Varsomers864309521
LitVarrs864309521
Maprs864309521
PheGenIrs864309521
Biobankrs864309521
1000 genomesrs864309521
hgdprs864309521
ensemblrs864309521
geneviewrs864309521
scholarrs864309521
googlers864309521
pharmgkbrs864309521
gwascentralrs864309521
openSNPrs864309521
23andMers864309521
SNPshotrs864309521
SNPdbers864309521
MSV3drs864309521
GWAS Ctlgrs864309521
Max Magnitude0
ClinVar
Risk rs864309521(C;C)
Alt rs864309521(C;C)
Reference Rs864309521(G;G)
Significance Pathogenic
Disease Three M syndrome 1
Variation info
Gene CUL7
CLNDBN Three M syndrome 1
Reversed 1
HGVS NC_000006.11:g.43011369C>G
CLNSRC
CLNACC RCV000202615.1,