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rs587783973

From SNPedia

Orientationplus
Geno Mag Summary
(TGTC;TGTC) 0 common in clinvar
Make rs587783973(-;-)
Make rs587783973(-;TCTG)
Make rs587783973(TCTG;TCTG)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37022111
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783973
ebirs587783973
HLIrs587783973
Exacrs587783973
Varsomers587783973
Maprs587783973
PheGenIrs587783973
hapmaprs587783973
1000 genomesrs587783973
hgdprs587783973
ensemblrs587783973
gopubmedrs587783973
geneviewrs587783973
scholarrs587783973
googlers587783973
pharmgkbrs587783973
gwascentralrs587783973
openSNPrs587783973
23andMers587783973
23andMe allrs587783973
SNP Nexus

SNPshotrs587783973
SNPdbers587783973
MSV3drs587783973
GWAS Ctlgrs587783973
Max Magnitude0
ClinVar
Risk rs587783973(;)
Alt rs587783973(;)
Reference rs587783973(TGTC;TGTC)
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.37022213_37022216delTCTG
CLNSRC
CLNACC RCV000146642.1,