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rs1057520617

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057520617(C;C)
Make rs1057520617(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48430770
GeneFBN1
is asnp
is mentioned by
dbSNPrs1057520617
dbSNP (old)rs1057520617
ClinGenrs1057520617
ebirs1057520617
HLIrs1057520617
Exacrs1057520617
Gnomadrs1057520617
Varsomers1057520617
Maprs1057520617
PheGenIrs1057520617
Biobankrs1057520617
1000 genomesrs1057520617
hgdprs1057520617
ensemblrs1057520617
gopubmedrs1057520617
geneviewrs1057520617
scholarrs1057520617
googlers1057520617
pharmgkbrs1057520617
gwascentralrs1057520617
openSNPrs1057520617
23andMers1057520617
23andMe allrs1057520617
SNPshotrs1057520617
SNPdbers1057520617
MSV3drs1057520617
GWAS Ctlgrs1057520617
Max Magnitude0
ClinVar
Risk rs1057520617(C;C)
Alt rs1057520617(C;C)
Reference Rs1057520617(T;T)
Significance Pathogenic
Disease not provided
Variation info
Gene FBN1
CLNDBN not provided
Reversed 1
HGVS NC_000015.9:g.48722967A>G
CLNSRC
CLNACC RCV000443127.1,