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rs727503768

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs727503768(G;G)
Make rs727503768(G;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position36955469
GeneNIPBL
is asnp
is mentioned by
dbSNPrs727503768
ebirs727503768
HLIrs727503768
Exacrs727503768
Varsomers727503768
Maprs727503768
PheGenIrs727503768
hapmaprs727503768
1000 genomesrs727503768
hgdprs727503768
ensemblrs727503768
gopubmedrs727503768
geneviewrs727503768
scholarrs727503768
googlers727503768
pharmgkbrs727503768
gwascentralrs727503768
openSNPrs727503768
23andMers727503768
23andMe allrs727503768
SNP Nexus

SNPshotrs727503768
SNPdbers727503768
MSV3drs727503768
GWAS Ctlgrs727503768
Max Magnitude0
ClinVar
Risk rs727503768(G;G)
Alt rs727503768(G;G)
Reference rs727503768(T;T)
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.36955571T>G
CLNSRC
CLNACC RCV000157044.1,