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rs147195031

From SNPedia

Marfan syndrome for homozygous recessive
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 2 Unaffected carrier of Marfan syndrome variant
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome15
Position48420780
GeneFBN1
is asnp
is mentioned by
dbSNPrs147195031
ebirs147195031
HLIrs147195031
Exacrs147195031
Varsomers147195031
Maprs147195031
PheGenIrs147195031
hapmaprs147195031
1000 genomesrs147195031
hgdprs147195031
ensemblrs147195031
gopubmedrs147195031
geneviewrs147195031
scholarrs147195031
googlers147195031
pharmgkbrs147195031
gwascentralrs147195031
openSNPrs147195031
23andMers147195031
23andMe allrs147195031
SNP Nexus

SNPshotrs147195031
SNPdbers147195031
MSV3drs147195031
GWAS Ctlgrs147195031
Max Magnitude2
ClinVar
Risk rs147195031(A;A)
Alt rs147195031(A;A)
Reference rs147195031(G;G)
Significance Pathogenic
Disease Marfan syndrome Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome Marfan syndrome, autosomal recessive
Reversed 0
HGVS NC_000015.9:g.48712977G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000029780.1, RCV000083258.3,



A patient with two copies of the minor allele of this FBN1 gene SNP has been diagnosed as being a patient with Marfan Syndrome.[PMID 23278365]

See also: OMIM 134797.0068