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rs146726731

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs146726731(C;T)
Make rs146726731(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position48520779
GeneFBN1
is asnp
is mentioned by
dbSNPrs146726731
dbSNP (old)rs146726731
ClinGenrs146726731
ebirs146726731
HLIrs146726731
Exacrs146726731
Gnomadrs146726731
Varsomers146726731
Maprs146726731
PheGenIrs146726731
Biobankrs146726731
1000 genomesrs146726731
hgdprs146726731
ensemblrs146726731
gopubmedrs146726731
geneviewrs146726731
scholarrs146726731
googlers146726731
pharmgkbrs146726731
gwascentralrs146726731
openSNPrs146726731
23andMers146726731
23andMe allrs146726731
SNP Nexus

SNPshotrs146726731
SNPdbers146726731
MSV3drs146726731
GWAS Ctlgrs146726731
Max Magnitude0
ClinVar
Risk rs146726731(T;T)
Alt rs146726731(T;T)
Reference Rs146726731(C;C)
Significance Other
Disease Marfan syndrome not specified Acromicric dysplasia Geleophysic dysplasia Ectopia lentis Weill-Marchesani syndrome Stiff skin syndrome Thoracic aortic aneurysm and aortic dissection MASS syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome not specified Acromicric dysplasia Geleophysic dysplasia Ectopia lentis Weill-Marchesani syndrome Stiff skin syndrome Thoracic aortic aneurysm and aortic dissection MASS syndrome
Reversed 0
HGVS NC_000015.9:g.48812976C>T
CLNSRC
CLNACC RCV000148500.2, RCV000181421.4, RCV000284823.1, RCV000307377.1, RCV000315057.1, RCV000364336.1, RCV000393539.1, RCV000393542.1, RCV000404755.1, RCV000463596.1,