Have questions? Visit https://www.reddit.com/r/SNPedia

rs587783893

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CCATAGCCTCAA;CCATAGCCTCAA) 0 common in clinvar
Make rs587783893(-;-)
Make rs587783893(-;TAGCCTCAACCA)
Make rs587783893(TAGCCTCAACCA;TAGCCTCAACCA)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position36955608
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783893
dbSNP (old)rs587783893
ClinGenrs587783893
ebirs587783893
HLIrs587783893
Exacrs587783893
Gnomadrs587783893
Varsomers587783893
Maprs587783893
PheGenIrs587783893
Biobankrs587783893
1000 genomesrs587783893
hgdprs587783893
ensemblrs587783893
gopubmedrs587783893
geneviewrs587783893
scholarrs587783893
googlers587783893
pharmgkbrs587783893
gwascentralrs587783893
openSNPrs587783893
23andMers587783893
23andMe allrs587783893
SNP Nexus

SNPshotrs587783893
SNPdbers587783893
MSV3drs587783893
GWAS Ctlgrs587783893
Max Magnitude0
ClinVar
Risk rs587783893(-;-)
Alt rs587783893(-;-)
Reference Rs587783893(CCATAGCCTCAA;CCATAGCCTCAA)
Significance Probable-Pathogenic
Disease Cornelia de Lange syndrome 1
Variation info
Gene NIPBL
CLNDBN Cornelia de Lange syndrome 1
Reversed 0
HGVS NC_000005.9:g.36955710_36955721delTAGCCTCAACCA
CLNSRC
CLNACC RCV000146531.1,