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

rs587783944

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAAATGTCAGTGA;AAAATGTCAGTGA) 0 common in clinvar
Make rs587783944(-;-)
Make rs587783944(-;AAATGTCAGTGAA)
Make rs587783944(AAATGTCAGTGAA;AAATGTCAGTGAA)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37008043
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783944
dbSNP (old)rs587783944
ClinGenrs587783944
ebirs587783944
HLIrs587783944
Exacrs587783944
Gnomadrs587783944
Varsomers587783944
Maprs587783944
PheGenIrs587783944
Biobankrs587783944
1000 genomesrs587783944
hgdprs587783944
ensemblrs587783944
gopubmedrs587783944
geneviewrs587783944
scholarrs587783944
googlers587783944
pharmgkbrs587783944
gwascentralrs587783944
openSNPrs587783944
23andMers587783944
23andMe allrs587783944
SNP Nexus

SNPshotrs587783944
SNPdbers587783944
MSV3drs587783944
GWAS Ctlgrs587783944
Max Magnitude0
ClinVar
Risk rs587783944(-;-)
Alt rs587783944(-;-)
Reference Rs587783944(AAAATGTCAGTGA;AAAATGTCAGTGA)
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.37008145_37008157delAAATGTCAGTGAA
CLNSRC
CLNACC RCV000146604.1,