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rs193922662

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs193922662(A;G)
Make rs193922662(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position30672346
GeneTGFBR2
is asnp
is mentioned by
dbSNPrs193922662
dbSNP (classic)rs193922662
ClinGenrs193922662
ebirs193922662
HLIrs193922662
Exacrs193922662
Gnomadrs193922662
Varsomers193922662
LitVarrs193922662
Maprs193922662
PheGenIrs193922662
Biobankrs193922662
1000 genomesrs193922662
hgdprs193922662
ensemblrs193922662
geneviewrs193922662
scholarrs193922662
googlers193922662
pharmgkbrs193922662
gwascentralrs193922662
openSNPrs193922662
23andMers193922662
SNPshotrs193922662
SNPdbers193922662
MSV3drs193922662
GWAS Ctlgrs193922662
Max Magnitude0
ClinVar
Risk rs193922662(G;G)
Alt rs193922662(G;G)
Reference Rs193922662(A;A)
Significance Probable-Pathogenic
Disease Loeys-Dietz syndrome
Variation info
Gene TGFBR2
CLNDBN Loeys-Dietz syndrome
Reversed 0
HGVS NC_000003.11:g.30713838A>G
CLNSRC ClinVar LabCorp
CLNACC RCV000030545.1,