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rs587783994

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783994(G;T)
Make rs587783994(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37038739
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783994
ebirs587783994
HLIrs587783994
Exacrs587783994
Varsomers587783994
Maprs587783994
PheGenIrs587783994
hapmaprs587783994
1000 genomesrs587783994
hgdprs587783994
ensemblrs587783994
gopubmedrs587783994
geneviewrs587783994
scholarrs587783994
googlers587783994
pharmgkbrs587783994
gwascentralrs587783994
openSNPrs587783994
23andMers587783994
23andMe allrs587783994
SNP Nexus

SNPshotrs587783994
SNPdbers587783994
MSV3drs587783994
GWAS Ctlgrs587783994
Max Magnitude0
ClinVar
Risk rs587783994(C,T;C,T)
Alt rs587783994(C,T;C,T)
Reference rs587783994(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.37038841G>C; NC_000005.9:g.37038841G>T
CLNSRC
CLNACC RCV000177818.1, RCV000146667.1,