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rs587777061

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777061(C;T)
Make rs587777061(T;T)
ReferenceGRCh38 38.1/142
Chromosome18
Position33738614
GeneASXL3
is asnp
is mentioned by
dbSNPrs587777061
ebirs587777061
HLIrs587777061
Exacrs587777061
Varsomers587777061
Maprs587777061
PheGenIrs587777061
hapmaprs587777061
1000 genomesrs587777061
hgdprs587777061
ensemblrs587777061
gopubmedrs587777061
geneviewrs587777061
scholarrs587777061
googlers587777061
pharmgkbrs587777061
gwascentralrs587777061
openSNPrs587777061
23andMers587777061
23andMe allrs587777061
SNP Nexus

SNPshotrs587777061
SNPdbers587777061
MSV3drs587777061
GWAS Ctlgrs587777061
Max Magnitude0
ClinVar
Risk rs587777061(T;T)
Alt rs587777061(T;T)
Reference rs587777061(C;C)
Significance Pathogenic
Disease Bainbridge-Ropers syndrome
Variation info
Gene ASXL3
CLNDBN Bainbridge-Ropers syndrome
Reversed 0
HGVS NC_000018.9:g.31318578C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000059321.2,