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rs587784055

From SNPedia

Orientationplus
Geno Mag Summary
(CTGGTGC;CTGGTGC) 0 common in clinvar
Make rs587784055(-;-)
Make rs587784055(-;GGTGCCT)
Make rs587784055(GGTGCCT;GGTGCCT)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37064754
GeneC5orf42, NIPBL
is asnp
is mentioned by
dbSNPrs587784055
ebirs587784055
HLIrs587784055
Exacrs587784055
Varsomers587784055
Maprs587784055
PheGenIrs587784055
hapmaprs587784055
1000 genomesrs587784055
hgdprs587784055
ensemblrs587784055
gopubmedrs587784055
geneviewrs587784055
scholarrs587784055
googlers587784055
pharmgkbrs587784055
gwascentralrs587784055
openSNPrs587784055
23andMers587784055
23andMe allrs587784055
SNP Nexus

SNPshotrs587784055
SNPdbers587784055
MSV3drs587784055
GWAS Ctlgrs587784055
Max Magnitude0
ClinVar
Risk rs587784055(;)
Alt rs587784055(;)
Reference rs587784055(CTGGTGC;CTGGTGC)
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.37064856_37064862delGGTGCCT
CLNSRC
CLNACC RCV000146740.1,