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rs112989722

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs112989722(C;T)
Make rs112989722(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position48437347
GeneFBN1
is asnp
is mentioned by
dbSNPrs112989722
ebirs112989722
HLIrs112989722
Exacrs112989722
Varsomers112989722
Maprs112989722
PheGenIrs112989722
hapmaprs112989722
1000 genomesrs112989722
hgdprs112989722
ensemblrs112989722
gopubmedrs112989722
geneviewrs112989722
scholarrs112989722
googlers112989722
pharmgkbrs112989722
gwascentralrs112989722
openSNPrs112989722
23andMers112989722
23andMe allrs112989722
SNP Nexus

SNPshotrs112989722
SNPdbers112989722
MSV3drs112989722
GWAS Ctlgrs112989722
Max Magnitude0
OMIM134797
Desc
Variant0030
Relatedalso
ClinVar
Risk rs112989722(G,T;G,T)
Alt rs112989722(G,T;G,T)
Reference rs112989722(C;C)
Significance Other
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48729544G>A; NC_000015.9:g.48729544G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000017912.31, RCV000156842.2,