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rs1060501100

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(GGGTCTT;GGGTCTT) 0 common in clinvar
Make rs1060501100(-;-)
Make rs1060501100(-;GGGTCTT)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48534137
GeneFBN1
is asnp
is mentioned by
dbSNPrs1060501100
dbSNP (old)rs1060501100
ClinGenrs1060501100
ebirs1060501100
HLIrs1060501100
Exacrs1060501100
Gnomadrs1060501100
Varsomers1060501100
Maprs1060501100
PheGenIrs1060501100
Biobankrs1060501100
1000 genomesrs1060501100
hgdprs1060501100
ensemblrs1060501100
gopubmedrs1060501100
geneviewrs1060501100
scholarrs1060501100
googlers1060501100
pharmgkbrs1060501100
gwascentralrs1060501100
openSNPrs1060501100
23andMers1060501100
23andMe allrs1060501100
SNPshotrs1060501100
SNPdbers1060501100
MSV3drs1060501100
GWAS Ctlgrs1060501100
Max Magnitude0
ClinVar
Risk rs1060501100(-;-)
Alt rs1060501100(-;-)
Reference Rs1060501100(GGGTCTT;GGGTCTT)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48826334_48826340delAAGACCC
CLNSRC
CLNACC RCV000462295.1,