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rs876658120

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TGAGACGTTGAC;TGAGACGTTGAC) 0 common in clinvar
Make rs876658120(-;-)
Make rs876658120(-;ACGTTGACTGAG)
Make rs876658120(ACGTTGACTGAG;ACGTTGACTGAG)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position30691441
GeneTGFBR2
is asnp
is mentioned by
dbSNPrs876658120
dbSNP (old)rs876658120
ClinGenrs876658120
ebirs876658120
HLIrs876658120
Exacrs876658120
Gnomadrs876658120
Varsomers876658120
Maprs876658120
PheGenIrs876658120
Biobankrs876658120
1000 genomesrs876658120
hgdprs876658120
ensemblrs876658120
gopubmedrs876658120
geneviewrs876658120
scholarrs876658120
googlers876658120
pharmgkbrs876658120
gwascentralrs876658120
openSNPrs876658120
23andMers876658120
23andMe allrs876658120
SNP Nexus

SNPshotrs876658120
SNPdbers876658120
MSV3drs876658120
GWAS Ctlgrs876658120
Max Magnitude0
ClinVar
Risk rs876658120(-;-)
Alt rs876658120(-;-)
Reference Rs876658120(TGAGACGTTGAC;TGAGACGTTGAC)
Significance Probable-Pathogenic
Disease Loeys-Dietz syndrome
Variation info
Gene TGFBR2
CLNDBN Loeys-Dietz syndrome
Reversed 0
HGVS NC_000003.11:g.30732933_30732944delACGTTGACTGAG
CLNSRC
CLNACC RCV000217150.1,