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rs752375653

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs752375653(-;-)
Make rs752375653(-;C)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position65546812
GeneLTBP3
is asnp
is mentioned by
dbSNPrs752375653
ebirs752375653
HLIrs752375653
Exacrs752375653
Varsomers752375653
Maprs752375653
PheGenIrs752375653
hapmaprs752375653
1000 genomesrs752375653
hgdprs752375653
ensemblrs752375653
gopubmedrs752375653
geneviewrs752375653
scholarrs752375653
googlers752375653
pharmgkbrs752375653
gwascentralrs752375653
openSNPrs752375653
23andMers752375653
23andMe allrs752375653
SNP Nexus

SNPshotrs752375653
SNPdbers752375653
MSV3drs752375653
GWAS Ctlgrs752375653
Max Magnitude0
ClinVar
Risk rs752375653(;)
Alt rs752375653(;)
Reference rs752375653(C;C)
Significance Pathogenic
Disease Verloes Bourguignon syndrome
Variation info
Gene LTBP3
CLNDBN Verloes Bourguignon syndrome
Reversed 0
HGVS NC_000011.9:g.65314283delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000186565.2,