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rs587783930

From SNPedia

Orientationplus
Geno Mag Summary
(TG;TG) 0 common in clinvar
Make rs587783930(-;-)
Make rs587783930(-;TG)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37003280
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783930
ebirs587783930
HLIrs587783930
Exacrs587783930
Varsomers587783930
Maprs587783930
PheGenIrs587783930
hapmaprs587783930
1000 genomesrs587783930
hgdprs587783930
ensemblrs587783930
gopubmedrs587783930
geneviewrs587783930
scholarrs587783930
googlers587783930
pharmgkbrs587783930
gwascentralrs587783930
openSNPrs587783930
23andMers587783930
23andMe allrs587783930
SNP Nexus

SNPshotrs587783930
SNPdbers587783930
MSV3drs587783930
GWAS Ctlgrs587783930
Max Magnitude0
ClinVar
Risk rs587783930(;)
Alt rs587783930(;)
Reference rs587783930(TG;TG)
Significance Pathogenic
Disease Cornelia de Lange syndrome 1
Variation info
Gene NIPBL
CLNDBN Cornelia de Lange syndrome 1
Reversed 0
HGVS NC_000005.9:g.37003382_37003383delTG
CLNSRC
CLNACC RCV000146586.1,