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rs587783894

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587783894(-;-)
Make rs587783894(-;A)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position36985226
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783894
ebirs587783894
HLIrs587783894
Exacrs587783894
Varsomers587783894
Maprs587783894
PheGenIrs587783894
hapmaprs587783894
1000 genomesrs587783894
hgdprs587783894
ensemblrs587783894
gopubmedrs587783894
geneviewrs587783894
scholarrs587783894
googlers587783894
pharmgkbrs587783894
gwascentralrs587783894
openSNPrs587783894
23andMers587783894
23andMe allrs587783894
SNP Nexus

SNPshotrs587783894
SNPdbers587783894
MSV3drs587783894
GWAS Ctlgrs587783894
Max Magnitude0
ClinVar
Risk rs587783894(;)
Alt rs587783894(;)
Reference rs587783894(A;A)
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.36985328delA
CLNSRC
CLNACC RCV000146532.1,