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rs587783925

From SNPedia

Orientationplus
Geno Mag Summary
(AAAAG;AAAAG) 0 common in clinvar
Make rs587783925(-;-)
Make rs587783925(-;GAAAA)
Make rs587783925(GAAAA;GAAAA)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37000840
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783925
ebirs587783925
HLIrs587783925
Exacrs587783925
Varsomers587783925
Maprs587783925
PheGenIrs587783925
hapmaprs587783925
1000 genomesrs587783925
hgdprs587783925
ensemblrs587783925
gopubmedrs587783925
geneviewrs587783925
scholarrs587783925
googlers587783925
pharmgkbrs587783925
gwascentralrs587783925
openSNPrs587783925
23andMers587783925
23andMe allrs587783925
SNP Nexus

SNPshotrs587783925
SNPdbers587783925
MSV3drs587783925
GWAS Ctlgrs587783925
Max Magnitude0
ClinVar
Risk rs587783925(;)
Alt rs587783925(;)
Reference rs587783925(AAAAG;AAAAG)
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.37000942_37000946delGAAAA
CLNSRC
CLNACC RCV000146579.1,