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rs397516493

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GTGTTGAGAGAT;GTGTTGAGAGAT) 0 common in clinvar
Make rs397516493(-;-)
Make rs397516493(-;GTGTTGAGAGAT)
ReferenceGRCh38 38.1/141
Chromosome3
Position30688458
GeneTGFBR2
is asnp
is mentioned by
dbSNPrs397516493
ebirs397516493
HLIrs397516493
Exacrs397516493
Varsomers397516493
Maprs397516493
PheGenIrs397516493
hapmaprs397516493
1000 genomesrs397516493
hgdprs397516493
ensemblrs397516493
gopubmedrs397516493
geneviewrs397516493
scholarrs397516493
googlers397516493
pharmgkbrs397516493
gwascentralrs397516493
openSNPrs397516493
23andMers397516493
23andMe allrs397516493
SNP Nexus

SNPshotrs397516493
SNPdbers397516493
MSV3drs397516493
GWAS Ctlgrs397516493
Max Magnitude0
ClinVar
Risk rs397516493(;)
Alt rs397516493(;)
Reference rs397516493(GTGTTGAGAGAT;GTGTTGAGAGAT)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene TGFBR2
CLNDBN Marfan syndrome
Reversed 0
HGVS NC_000003.11:g.30729950_30729961delGTGTTGAGAGAT
CLNSRC ClinVar
CLNACC RCV000036640.1,