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rs1057518909

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TGAA;TGAA) 0 common in clinvar
Make rs1057518909(-;-)
Make rs1057518909(-;TGAA)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48534099
GeneFBN1
is asnp
is mentioned by
dbSNPrs1057518909
dbSNP (old)rs1057518909
ClinGenrs1057518909
ebirs1057518909
HLIrs1057518909
Exacrs1057518909
Gnomadrs1057518909
Varsomers1057518909
Maprs1057518909
PheGenIrs1057518909
Biobankrs1057518909
1000 genomesrs1057518909
hgdprs1057518909
ensemblrs1057518909
gopubmedrs1057518909
geneviewrs1057518909
scholarrs1057518909
googlers1057518909
pharmgkbrs1057518909
gwascentralrs1057518909
openSNPrs1057518909
23andMers1057518909
23andMe allrs1057518909
SNPshotrs1057518909
SNPdbers1057518909
MSV3drs1057518909
GWAS Ctlgrs1057518909
Max Magnitude0
ClinVar
Risk rs1057518909(-;-)
Alt rs1057518909(-;-)
Reference Rs1057518909(TGAA;TGAA)
Significance Pathogenic
Disease Inguinal hernia Joint hypermobility Myopia Pectus excavatum Tall stature
Variation info
Gene FBN1
CLNDBN Inguinal hernia Joint hypermobility Myopia Pectus excavatum Tall stature
Reversed 1
HGVS NC_000015.9:g.48826296_48826299delTTCA
CLNSRC
CLNACC RCV000415067.1,