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rs797045788

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(ATTAA;ATTAA) 0 common in clinvar
Make rs797045788(ATTAA;TT)
Make rs797045788(TT;TT)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position37064773
GeneC5orf42, NIPBL
is asnp
is mentioned by
dbSNPrs797045788
ClinGenrs797045788
ebirs797045788
HLIrs797045788
Exacrs797045788
Varsomers797045788
Maprs797045788
PheGenIrs797045788
hapmaprs797045788
1000 genomesrs797045788
hgdprs797045788
ensemblrs797045788
gopubmedrs797045788
geneviewrs797045788
scholarrs797045788
googlers797045788
pharmgkbrs797045788
gwascentralrs797045788
openSNPrs797045788
23andMers797045788
23andMe allrs797045788
SNP Nexus

SNPshotrs797045788
SNPdbers797045788
MSV3drs797045788
GWAS Ctlgrs797045788
Max Magnitude0
ClinVar
Risk rs797045788(TT;TT)
Alt rs797045788(TT;TT)
Reference Rs797045788(ATTAA;ATTAA)
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.37064875_37064879delATTAAinsTT
CLNSRC
CLNACC RCV000193586.1,