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rs727503770

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727503770(A;A)
Make rs727503770(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position36975821
GeneNIPBL
is asnp
is mentioned by
dbSNPrs727503770
ebirs727503770
HLIrs727503770
Exacrs727503770
Varsomers727503770
Maprs727503770
PheGenIrs727503770
hapmaprs727503770
1000 genomesrs727503770
hgdprs727503770
ensemblrs727503770
gopubmedrs727503770
geneviewrs727503770
scholarrs727503770
googlers727503770
pharmgkbrs727503770
gwascentralrs727503770
openSNPrs727503770
23andMers727503770
23andMe allrs727503770
SNP Nexus

SNPshotrs727503770
SNPdbers727503770
MSV3drs727503770
GWAS Ctlgrs727503770
Max Magnitude0
ClinVar
Risk rs727503770(A;A)
Alt rs727503770(A;A)
Reference rs727503770(C;C)
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.36975923C>A
CLNSRC
CLNACC RCV000157046.1,