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rs587777062

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777062(C;T)
Make rs587777062(T;T)
ReferenceGRCh38 38.1/142
Chromosome18
Position33738800
GeneASXL3
is asnp
is mentioned by
dbSNPrs587777062
ebirs587777062
HLIrs587777062
Exacrs587777062
Varsomers587777062
Maprs587777062
PheGenIrs587777062
hapmaprs587777062
1000 genomesrs587777062
hgdprs587777062
ensemblrs587777062
gopubmedrs587777062
geneviewrs587777062
scholarrs587777062
googlers587777062
pharmgkbrs587777062
gwascentralrs587777062
openSNPrs587777062
23andMers587777062
23andMe allrs587777062
SNP Nexus

SNPshotrs587777062
SNPdbers587777062
MSV3drs587777062
GWAS Ctlgrs587777062
Max Magnitude0
ClinVar
Risk rs587777062(T;T)
Alt rs587777062(T;T)
Reference rs587777062(C;C)
Significance Pathogenic
Disease Bainbridge-Ropers syndrome
Variation info
Gene ASXL3
CLNDBN Bainbridge-Ropers syndrome
Reversed 0
HGVS NC_000018.9:g.31318764C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000059322.2,