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rs1060499547

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1060499547(A;G)
Make rs1060499547(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position130862890
GeneABL1
is asnp
is mentioned by
dbSNPrs1060499547
dbSNP (old)rs1060499547
ClinGenrs1060499547
ebirs1060499547
HLIrs1060499547
Exacrs1060499547
Gnomadrs1060499547
Varsomers1060499547
Maprs1060499547
PheGenIrs1060499547
Biobankrs1060499547
1000 genomesrs1060499547
hgdprs1060499547
ensemblrs1060499547
gopubmedrs1060499547
geneviewrs1060499547
scholarrs1060499547
googlers1060499547
pharmgkbrs1060499547
gwascentralrs1060499547
openSNPrs1060499547
23andMers1060499547
23andMe allrs1060499547
SNPshotrs1060499547
SNPdbers1060499547
MSV3drs1060499547
GWAS Ctlgrs1060499547
Max Magnitude0
ClinVar
Risk rs1060499547(G;G)
Alt rs1060499547(G;G)
Reference Rs1060499547(A;A)
Significance Pathogenic
Disease Abnormality of skeletal morphology Congenital heart disease Failure to thrive
Variation info
Gene ABL1
CLNDBN Abnormality of skeletal morphology Congenital heart disease Failure to thrive
Reversed 0
HGVS NC_000009.11:g.133738277A>G
CLNSRC
CLNACC RCV000445576.1,