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rs1057519498

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057519498(-;C)
Make rs1057519498(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position33739365
GeneASXL3
is asnp
is mentioned by
dbSNPrs1057519498
dbSNP (old)rs1057519498
ClinGenrs1057519498
ebirs1057519498
HLIrs1057519498
Exacrs1057519498
Gnomadrs1057519498
Varsomers1057519498
Maprs1057519498
PheGenIrs1057519498
Biobankrs1057519498
1000 genomesrs1057519498
hgdprs1057519498
ensemblrs1057519498
gopubmedrs1057519498
geneviewrs1057519498
scholarrs1057519498
googlers1057519498
pharmgkbrs1057519498
gwascentralrs1057519498
openSNPrs1057519498
23andMers1057519498
23andMe allrs1057519498
SNPshotrs1057519498
SNPdbers1057519498
MSV3drs1057519498
GWAS Ctlgrs1057519498
Max Magnitude0
ClinVar
Risk rs1057519498(C;C)
Alt rs1057519498(C;C)
Reference Rs1057519498(-;-)
Significance Pathogenic
Disease Bainbridge-Ropers syndrome
Variation info
Gene ASXL3
CLNDBN Bainbridge-Ropers syndrome
Reversed 0
HGVS NC_000018.9:g.31319329dupC
CLNSRC
CLNACC RCV000416511.1,