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rs587783917

From SNPedia

Orientationplus
Geno Mag Summary
(GTCCTAAT;GTCCTAAT) 0 common in clinvar
Make rs587783917(-;-)
Make rs587783917(-;CCTAATGT)
Make rs587783917(CCTAATGT;CCTAATGT)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position36958183
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783917
ebirs587783917
HLIrs587783917
Exacrs587783917
Varsomers587783917
Maprs587783917
PheGenIrs587783917
hapmaprs587783917
1000 genomesrs587783917
hgdprs587783917
ensemblrs587783917
gopubmedrs587783917
geneviewrs587783917
scholarrs587783917
googlers587783917
pharmgkbrs587783917
gwascentralrs587783917
openSNPrs587783917
23andMers587783917
23andMe allrs587783917
SNP Nexus

SNPshotrs587783917
SNPdbers587783917
MSV3drs587783917
GWAS Ctlgrs587783917
Max Magnitude0
ClinVar
Risk rs587783917(;)
Alt rs587783917(;)
Reference rs587783917(GTCCTAAT;GTCCTAAT)
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.36958285_36958292delCCTAATGT
CLNSRC
CLNACC RCV000146566.1,