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rs587783957

From SNPedia

Orientationplus
Geno Mag Summary
(TGTT;TGTT) 0 common in clinvar
Make rs587783957(-;-)
Make rs587783957(-;TTTG)
Make rs587783957(TTTG;TTTG)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37016078
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783957
ebirs587783957
HLIrs587783957
Exacrs587783957
Varsomers587783957
Maprs587783957
PheGenIrs587783957
hapmaprs587783957
1000 genomesrs587783957
hgdprs587783957
ensemblrs587783957
gopubmedrs587783957
geneviewrs587783957
scholarrs587783957
googlers587783957
pharmgkbrs587783957
gwascentralrs587783957
openSNPrs587783957
23andMers587783957
23andMe allrs587783957
SNP Nexus

SNPshotrs587783957
SNPdbers587783957
MSV3drs587783957
GWAS Ctlgrs587783957
Max Magnitude0
ClinVar
Risk rs587783957(;)
Alt rs587783957(;)
Reference rs587783957(TGTT;TGTT)
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.37016180_37016183delTTTG
CLNSRC
CLNACC RCV000146619.1,