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rs796052116

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs796052116(C;T)
Make rs796052116(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position65554291
GeneLTBP3
is asnp
is mentioned by
dbSNPrs796052116
ebirs796052116
HLIrs796052116
Exacrs796052116
Varsomers796052116
Maprs796052116
PheGenIrs796052116
hapmaprs796052116
1000 genomesrs796052116
hgdprs796052116
ensemblrs796052116
gopubmedrs796052116
geneviewrs796052116
scholarrs796052116
googlers796052116
pharmgkbrs796052116
gwascentralrs796052116
openSNPrs796052116
23andMers796052116
23andMe allrs796052116
SNP Nexus

SNPshotrs796052116
SNPdbers796052116
MSV3drs796052116
GWAS Ctlgrs796052116
Max Magnitude0
ClinVar
Risk rs796052116(T;T)
Alt rs796052116(T;T)
Reference rs796052116(C;C)
Significance Pathogenic
Disease Verloes Bourguignon syndrome
Variation info
Gene LTBP3
CLNDBN Verloes Bourguignon syndrome
Reversed 1
HGVS NC_000011.9:g.65321762G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000186563.2,