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rs724159980

From SNPedia

Orientationplus
Geno Mag Summary
(CC;CC) 0 common in clinvar
Make rs724159980(A;A)
Make rs724159980(A;CC)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position36876937
GeneNIPBL, NIPBL-AS1
is asnp
is mentioned by
dbSNPrs724159980
ebirs724159980
HLIrs724159980
Exacrs724159980
Varsomers724159980
Maprs724159980
PheGenIrs724159980
hapmaprs724159980
1000 genomesrs724159980
hgdprs724159980
ensemblrs724159980
gopubmedrs724159980
geneviewrs724159980
scholarrs724159980
googlers724159980
pharmgkbrs724159980
gwascentralrs724159980
openSNPrs724159980
23andMers724159980
23andMe allrs724159980
SNP Nexus

SNPshotrs724159980
SNPdbers724159980
MSV3drs724159980
GWAS Ctlgrs724159980
Max Magnitude0
ClinVar
Risk rs724159980(A;A)
Alt rs724159980(A;A)
Reference rs724159980(CC;CC)
Significance Pathogenic
Disease Cornelia de Lange syndrome 1
Variation info
Gene NIPBL NIPBL-AS1
CLNDBN Cornelia de Lange syndrome 1
Reversed 0
HGVS NC_000005.9:g.36877039_36877040delCCinsA
CLNSRC OMIM Allelic Variant
CLNACC RCV000002233.2,