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rs1060502826

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GG;GG) 0 common in clinvar
Make rs1060502826(-;-)
Make rs1060502826(-;GG)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position75963358
GeneTGFB3
is asnp
is mentioned by
dbSNPrs1060502826
dbSNP (old)rs1060502826
ClinGenrs1060502826
ebirs1060502826
HLIrs1060502826
Exacrs1060502826
Gnomadrs1060502826
Varsomers1060502826
LitVarrs1060502826
Maprs1060502826
PheGenIrs1060502826
Biobankrs1060502826
1000 genomesrs1060502826
hgdprs1060502826
ensemblrs1060502826
gopubmedrs1060502826
geneviewrs1060502826
scholarrs1060502826
googlers1060502826
pharmgkbrs1060502826
gwascentralrs1060502826
openSNPrs1060502826
23andMers1060502826
23andMe allrs1060502826
SNPshotrs1060502826
SNPdbers1060502826
MSV3drs1060502826
GWAS Ctlgrs1060502826
Max Magnitude0
ClinVar
Risk rs1060502826(-;-)
Alt rs1060502826(-;-)
Reference Rs1060502826(GG;GG)
Significance Pathogenic
Disease Loeys-Dietz syndrome 4
Variation info
Gene TGFB3
CLNDBN Loeys-Dietz syndrome 4
Reversed 1
HGVS NC_000014.8:g.76429701_76429702delCC
CLNSRC
CLNACC RCV000462294.1,