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rs587783940

From SNPedia

Orientationplus
Geno Mag Summary
(TAAG;TAAG) 0 common in clinvar
Make rs587783940(-;-)
Make rs587783940(-;AAGT)
Make rs587783940(AAGT;AAGT)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37007333
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783940
ebirs587783940
HLIrs587783940
Exacrs587783940
Varsomers587783940
Maprs587783940
PheGenIrs587783940
hapmaprs587783940
1000 genomesrs587783940
hgdprs587783940
ensemblrs587783940
gopubmedrs587783940
geneviewrs587783940
scholarrs587783940
googlers587783940
pharmgkbrs587783940
gwascentralrs587783940
openSNPrs587783940
23andMers587783940
23andMe allrs587783940
SNP Nexus

SNPshotrs587783940
SNPdbers587783940
MSV3drs587783940
GWAS Ctlgrs587783940
Max Magnitude0
ClinVar
Risk rs587783940(;)
Alt rs587783940(;)
Reference rs587783940(TAAG;TAAG)
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.37007435_37007438delAAGT
CLNSRC
CLNACC RCV000146599.1,