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rs387907212

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907212(C;G)
Make rs387907212(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position116854279
GeneRAD21
is asnp
is mentioned by
dbSNPrs387907212
ebirs387907212
HLIrs387907212
Exacrs387907212
Varsomers387907212
Maprs387907212
PheGenIrs387907212
hapmaprs387907212
1000 genomesrs387907212
hgdprs387907212
ensemblrs387907212
gopubmedrs387907212
geneviewrs387907212
scholarrs387907212
googlers387907212
pharmgkbrs387907212
gwascentralrs387907212
openSNPrs387907212
23andMers387907212
23andMe allrs387907212
SNP Nexus

SNPshotrs387907212
SNPdbers387907212
MSV3drs387907212
GWAS Ctlgrs387907212
Max Magnitude0
ClinVar
Risk rs387907212(G;G)
Alt rs387907212(G;G)
Reference rs387907212(C;C)
Significance Pathogenic
Disease Cornelia de Lange syndrome 4
Variation info
Gene RAD21
CLNDBN Cornelia de Lange syndrome 4
Reversed 1
HGVS NC_000008.10:g.117866518G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000029138.3,