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rs1057519005

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519005(A;A)
Make rs1057519005(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position33739390
GeneASXL3
is asnp
is mentioned by
dbSNPrs1057519005
dbSNP (old)rs1057519005
ClinGenrs1057519005
ebirs1057519005
HLIrs1057519005
Exacrs1057519005
Gnomadrs1057519005
Varsomers1057519005
Maprs1057519005
PheGenIrs1057519005
Biobankrs1057519005
1000 genomesrs1057519005
hgdprs1057519005
ensemblrs1057519005
gopubmedrs1057519005
geneviewrs1057519005
scholarrs1057519005
googlers1057519005
pharmgkbrs1057519005
gwascentralrs1057519005
openSNPrs1057519005
23andMers1057519005
23andMe allrs1057519005
SNPshotrs1057519005
SNPdbers1057519005
MSV3drs1057519005
GWAS Ctlgrs1057519005
Max Magnitude0
ClinVar
Risk rs1057519005(A;A)
Alt rs1057519005(A;A)
Reference Rs1057519005(C;C)
Significance Probable-Pathogenic
Disease Language retardation intellectual deficiency
Variation info
Gene ASXL3
CLNDBN Language retardation intellectual deficiency
Reversed 0
HGVS NC_000018.9:g.31319354C>A
CLNSRC
CLNACC RCV000415197.1,