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rs672601352

From SNPedia

Orientationminus
Geno Mag Summary
(AACAAGCTGTGC;AACAAGCTGTGC) 0 common in clinvar
Make rs672601352(-;-)
Make rs672601352(-;AACAAGCTGTGC)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position48516343
GeneFBN1
is asnp
is mentioned by
dbSNPrs672601352
ebirs672601352
HLIrs672601352
Exacrs672601352
Varsomers672601352
Maprs672601352
PheGenIrs672601352
hapmaprs672601352
1000 genomesrs672601352
hgdprs672601352
ensemblrs672601352
gopubmedrs672601352
geneviewrs672601352
scholarrs672601352
googlers672601352
pharmgkbrs672601352
gwascentralrs672601352
openSNPrs672601352
23andMers672601352
23andMe allrs672601352
SNP Nexus

SNPshotrs672601352
SNPdbers672601352
MSV3drs672601352
GWAS Ctlgrs672601352
Max Magnitude0
ClinVar
Risk rs672601352(;)
Alt rs672601352(;)
Reference rs672601352(AACAAGCTGTGC;AACAAGCTGTGC)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48808540_48808551delGCACAGCTTGTT
CLNSRC
CLNACC RCV000149455.1,