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rs587783975

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783975(C;T)
Make rs587783975(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37022271
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783975
ebirs587783975
HLIrs587783975
Exacrs587783975
Varsomers587783975
Maprs587783975
PheGenIrs587783975
hapmaprs587783975
1000 genomesrs587783975
hgdprs587783975
ensemblrs587783975
gopubmedrs587783975
geneviewrs587783975
scholarrs587783975
googlers587783975
pharmgkbrs587783975
gwascentralrs587783975
openSNPrs587783975
23andMers587783975
23andMe allrs587783975
SNP Nexus

SNPshotrs587783975
SNPdbers587783975
MSV3drs587783975
GWAS Ctlgrs587783975
Max Magnitude0
ClinVar
Risk rs587783975(T;T)
Alt rs587783975(T;T)
Reference rs587783975(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.37022373C>T
CLNSRC
CLNACC RCV000146644.1,