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rs587783927

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783927(G;T)
Make rs587783927(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position36958232
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783927
ebirs587783927
HLIrs587783927
Exacrs587783927
Varsomers587783927
Maprs587783927
PheGenIrs587783927
hapmaprs587783927
1000 genomesrs587783927
hgdprs587783927
ensemblrs587783927
gopubmedrs587783927
geneviewrs587783927
scholarrs587783927
googlers587783927
pharmgkbrs587783927
gwascentralrs587783927
openSNPrs587783927
23andMers587783927
23andMe allrs587783927
SNP Nexus

SNPshotrs587783927
SNPdbers587783927
MSV3drs587783927
GWAS Ctlgrs587783927
Max Magnitude0
ClinVar
Risk rs587783927(T;T)
Alt rs587783927(T;T)
Reference rs587783927(G;G)
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.36958334G>T
CLNSRC
CLNACC RCV000146582.1,