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rs797045770

From SNPedia

Orientationplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045770(-;TG)
Make rs797045770(TG;TG)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position37020494
GeneNIPBL
is asnp
is mentioned by
dbSNPrs797045770
ClinGenrs797045770
ebirs797045770
HLIrs797045770
Exacrs797045770
Varsomers797045770
Maprs797045770
PheGenIrs797045770
hapmaprs797045770
1000 genomesrs797045770
hgdprs797045770
ensemblrs797045770
gopubmedrs797045770
geneviewrs797045770
scholarrs797045770
googlers797045770
pharmgkbrs797045770
gwascentralrs797045770
openSNPrs797045770
23andMers797045770
23andMe allrs797045770
SNP Nexus

SNPshotrs797045770
SNPdbers797045770
MSV3drs797045770
GWAS Ctlgrs797045770
Max Magnitude0
ClinVar
Risk rs797045770(TG;TG)
Alt rs797045770(TG;TG)
Reference Rs797045770(;)
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.37020596_37020597insTG
CLNSRC
CLNACC RCV000194767.1,