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rs730880331

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs730880331(-;-)
Make rs730880331(-;T)
Make rs730880331(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37020660
GeneNIPBL
is asnp
is mentioned by
dbSNPrs730880331
ebirs730880331
HLIrs730880331
Exacrs730880331
Varsomers730880331
Maprs730880331
PheGenIrs730880331
hapmaprs730880331
1000 genomesrs730880331
hgdprs730880331
ensemblrs730880331
gopubmedrs730880331
geneviewrs730880331
scholarrs730880331
googlers730880331
pharmgkbrs730880331
gwascentralrs730880331
openSNPrs730880331
23andMers730880331
23andMe allrs730880331
SNP Nexus

SNPshotrs730880331
SNPdbers730880331
MSV3drs730880331
GWAS Ctlgrs730880331
Max Magnitude0
ClinVar
Risk rs730880331(T;T)
Alt rs730880331(T;T)
Reference rs730880331(;)
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.37020762dupT
CLNSRC
CLNACC RCV000157041.1,