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rs587783952

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587783952(G;G)
Make rs587783952(G;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37014715
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783952
ebirs587783952
HLIrs587783952
Exacrs587783952
Varsomers587783952
Maprs587783952
PheGenIrs587783952
hapmaprs587783952
1000 genomesrs587783952
hgdprs587783952
ensemblrs587783952
gopubmedrs587783952
geneviewrs587783952
scholarrs587783952
googlers587783952
pharmgkbrs587783952
gwascentralrs587783952
openSNPrs587783952
23andMers587783952
23andMe allrs587783952
SNP Nexus

SNPshotrs587783952
SNPdbers587783952
MSV3drs587783952
GWAS Ctlgrs587783952
Max Magnitude0
ClinVar
Risk rs587783952(G;G)
Alt rs587783952(G;G)
Reference rs587783952(T;T)
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.37014817T>G
CLNSRC
CLNACC RCV000146614.1,