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rs587783971

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783971(C;T)
Make rs587783971(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37022057
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783971
ebirs587783971
HLIrs587783971
Exacrs587783971
Varsomers587783971
Maprs587783971
PheGenIrs587783971
hapmaprs587783971
1000 genomesrs587783971
hgdprs587783971
ensemblrs587783971
gopubmedrs587783971
geneviewrs587783971
scholarrs587783971
googlers587783971
pharmgkbrs587783971
gwascentralrs587783971
openSNPrs587783971
23andMers587783971
23andMe allrs587783971
SNP Nexus

SNPshotrs587783971
SNPdbers587783971
MSV3drs587783971
GWAS Ctlgrs587783971
Max Magnitude0
ClinVar
Risk rs587783971(T;T)
Alt rs587783971(T;T)
Reference rs587783971(C;C)
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.37022159C>T
CLNSRC
CLNACC RCV000146638.1,