Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs1057519320

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519320(C;T)
Make rs1057519320(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48444574
GeneFBN1
is asnp
is mentioned by
dbSNPrs1057519320
dbSNP (old)rs1057519320
ClinGenrs1057519320
ebirs1057519320
HLIrs1057519320
Exacrs1057519320
Gnomadrs1057519320
Varsomers1057519320
Maprs1057519320
PheGenIrs1057519320
Biobankrs1057519320
1000 genomesrs1057519320
hgdprs1057519320
ensemblrs1057519320
gopubmedrs1057519320
geneviewrs1057519320
scholarrs1057519320
googlers1057519320
pharmgkbrs1057519320
gwascentralrs1057519320
openSNPrs1057519320
23andMers1057519320
23andMe allrs1057519320
SNPshotrs1057519320
SNPdbers1057519320
MSV3drs1057519320
GWAS Ctlgrs1057519320
Max Magnitude0
ClinVar
Risk rs1057519320(T;T)
Alt rs1057519320(T;T)
Reference Rs1057519320(C;C)
Significance Probable-Pathogenic
Disease Congenital contractural arachnodactyly Marfan syndrome
Variation info
Gene FBN1
CLNDBN Congenital contractural arachnodactyly Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48736771G>A
CLNSRC
CLNACC RCV000416355.1,