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rs1060499602

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060499602(C;T)
Make rs1060499602(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position33738875
GeneASXL3
is asnp
is mentioned by
dbSNPrs1060499602
dbSNP (old)rs1060499602
ClinGenrs1060499602
ebirs1060499602
HLIrs1060499602
Exacrs1060499602
Gnomadrs1060499602
Varsomers1060499602
Maprs1060499602
PheGenIrs1060499602
Biobankrs1060499602
1000 genomesrs1060499602
hgdprs1060499602
ensemblrs1060499602
gopubmedrs1060499602
geneviewrs1060499602
scholarrs1060499602
googlers1060499602
pharmgkbrs1060499602
gwascentralrs1060499602
openSNPrs1060499602
23andMers1060499602
23andMe allrs1060499602
SNPshotrs1060499602
SNPdbers1060499602
MSV3drs1060499602
GWAS Ctlgrs1060499602
Max Magnitude0
ClinVar
Risk rs1060499602(T;T)
Alt rs1060499602(T;T)
Reference Rs1060499602(C;C)
Significance Probable-Pathogenic
Disease Bainbridge-Ropers syndrome
Variation info
Gene ASXL3
CLNDBN Bainbridge-Ropers syndrome
Reversed 0
HGVS NC_000018.9:g.31318839C>T
CLNSRC
CLNACC RCV000477964.1,