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rs1060499548

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060499548(A;A)
Make rs1060499548(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position130872961
GeneABL1
is asnp
is mentioned by
dbSNPrs1060499548
dbSNP (old)rs1060499548
ClinGenrs1060499548
ebirs1060499548
HLIrs1060499548
Exacrs1060499548
Gnomadrs1060499548
Varsomers1060499548
LitVarrs1060499548
Maprs1060499548
PheGenIrs1060499548
Biobankrs1060499548
1000 genomesrs1060499548
hgdprs1060499548
ensemblrs1060499548
gopubmedrs1060499548
geneviewrs1060499548
scholarrs1060499548
googlers1060499548
pharmgkbrs1060499548
gwascentralrs1060499548
openSNPrs1060499548
23andMers1060499548
23andMe allrs1060499548
SNPshotrs1060499548
SNPdbers1060499548
MSV3drs1060499548
GWAS Ctlgrs1060499548
Max Magnitude0
ClinVar
Risk rs1060499548(A;A)
Alt rs1060499548(A;A)
Reference Rs1060499548(G;G)
Significance Pathogenic
Disease Abnormality of skeletal morphology Congenital heart disease Failure to thrive not provided
Variation info
Gene ABL1
CLNDBN Abnormality of skeletal morphology Congenital heart disease Failure to thrive not provided
Reversed 0
HGVS NC_000009.11:g.133748348G>A
CLNSRC
CLNACC RCV000445566.1, RCV000492810.1,