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rs1060503037

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060503037(C;C)
Make rs1060503037(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position232333839
GeneDIS3L2
is asnp
is mentioned by
dbSNPrs1060503037
dbSNP (old)rs1060503037
ClinGenrs1060503037
ebirs1060503037
HLIrs1060503037
Exacrs1060503037
Gnomadrs1060503037
Varsomers1060503037
Maprs1060503037
PheGenIrs1060503037
Biobankrs1060503037
1000 genomesrs1060503037
hgdprs1060503037
ensemblrs1060503037
gopubmedrs1060503037
geneviewrs1060503037
scholarrs1060503037
googlers1060503037
pharmgkbrs1060503037
gwascentralrs1060503037
openSNPrs1060503037
23andMers1060503037
23andMe allrs1060503037
SNPshotrs1060503037
SNPdbers1060503037
MSV3drs1060503037
GWAS Ctlgrs1060503037
Max Magnitude0
ClinVar
Risk rs1060503037(C;C)
Alt rs1060503037(C;C)
Reference Rs1060503037(G;G)
Significance Probable-Pathogenic
Disease Renal hamartomas nephroblastomatosis and fetal gigantism
Variation info
Gene DIS3L2
CLNDBN Renal hamartomas nephroblastomatosis and fetal gigantism
Reversed 0
HGVS NC_000002.11:g.233198549G>C
CLNSRC
CLNACC RCV000461422.1,