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rs1057519321

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519321(G;T)
Make rs1057519321(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position128349391
GeneFBN2
is asnp
is mentioned by
dbSNPrs1057519321
dbSNP (old)rs1057519321
ClinGenrs1057519321
ebirs1057519321
HLIrs1057519321
Exacrs1057519321
Gnomadrs1057519321
Varsomers1057519321
Maprs1057519321
PheGenIrs1057519321
Biobankrs1057519321
1000 genomesrs1057519321
hgdprs1057519321
ensemblrs1057519321
gopubmedrs1057519321
geneviewrs1057519321
scholarrs1057519321
googlers1057519321
pharmgkbrs1057519321
gwascentralrs1057519321
openSNPrs1057519321
23andMers1057519321
23andMe allrs1057519321
SNPshotrs1057519321
SNPdbers1057519321
MSV3drs1057519321
GWAS Ctlgrs1057519321
Max Magnitude0
ClinVar
Risk rs1057519321(T;T)
Alt rs1057519321(T;T)
Reference Rs1057519321(G;G)
Significance Probable-Pathogenic
Disease Congenital contractural arachnodactyly Marfan syndrome
Variation info
Gene FBN2
CLNDBN Congenital contractural arachnodactyly Marfan syndrome
Reversed 1
HGVS NC_000005.9:g.127685083C>A
CLNSRC
CLNACC RCV000416376.1,