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rs727504047

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs727504047(G;G)
Make rs727504047(G;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37048613
GeneNIPBL
is asnp
is mentioned by
dbSNPrs727504047
ebirs727504047
HLIrs727504047
Exacrs727504047
Varsomers727504047
Maprs727504047
PheGenIrs727504047
hapmaprs727504047
1000 genomesrs727504047
hgdprs727504047
ensemblrs727504047
gopubmedrs727504047
geneviewrs727504047
scholarrs727504047
googlers727504047
pharmgkbrs727504047
gwascentralrs727504047
openSNPrs727504047
23andMers727504047
23andMe allrs727504047
SNP Nexus

SNPshotrs727504047
SNPdbers727504047
MSV3drs727504047
GWAS Ctlgrs727504047
Max Magnitude0
ClinVar
Risk rs727504047(G;G)
Alt rs727504047(G;G)
Reference rs727504047(T;T)
Significance Pathogenic
Disease not provided Cornelia de Lange syndrome 1
Variation info
Gene NIPBL
CLNDBN not provided Cornelia de Lange syndrome 1
Reversed 0
HGVS NC_000005.9:g.37048715T>G
CLNSRC
CLNACC RCV000153573.2, RCV000178016.1,