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rs147054690

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs147054690(G;T)
Make rs147054690(T;T)
ReferenceGRCh38 38.1/142
Chromosome5
Position37045577
GeneNIPBL
is asnp
is mentioned by
dbSNPrs147054690
ebirs147054690
HLIrs147054690
Exacrs147054690
Varsomers147054690
Maprs147054690
PheGenIrs147054690
hapmaprs147054690
1000 genomesrs147054690
hgdprs147054690
ensemblrs147054690
gopubmedrs147054690
geneviewrs147054690
scholarrs147054690
googlers147054690
pharmgkbrs147054690
gwascentralrs147054690
openSNPrs147054690
23andMers147054690
23andMe allrs147054690
SNP Nexus

SNPshotrs147054690
SNPdbers147054690
MSV3drs147054690
GWAS Ctlgrs147054690
Max Magnitude0
ClinVar
Risk rs147054690(T;T)
Alt rs147054690(T;T)
Reference rs147054690(G;G)
Significance Probable-Pathogenic
Disease Cornelia de Lange syndrome 1
Variation info
Gene NIPBL
CLNDBN Cornelia de Lange syndrome 1
Reversed 0
HGVS NC_000005.9:g.37045679G>T
CLNSRC ClinVar University of Chicago
CLNACC RCV000146689.1,