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rs876657410

From SNPedia

Orientationminus
Geno Mag Summary
(ACGGGGCA;ACGGGGCA) 0 common in clinvar
Make rs876657410(-;-)
Make rs876657410(-;ACGGGGCA)
ReferenceGRCh38.p2 38.2/147
Chromosome15
Position48412613
GeneFBN1
is asnp
is mentioned by
dbSNPrs876657410
ebirs876657410
HLIrs876657410
Exacrs876657410
Varsomers876657410
Maprs876657410
PheGenIrs876657410
hapmaprs876657410
1000 genomesrs876657410
hgdprs876657410
ensemblrs876657410
gopubmedrs876657410
geneviewrs876657410
scholarrs876657410
googlers876657410
pharmgkbrs876657410
gwascentralrs876657410
openSNPrs876657410
23andMers876657410
23andMe allrs876657410
SNP Nexus

SNPshotrs876657410
SNPdbers876657410
MSV3drs876657410
GWAS Ctlgrs876657410
Max Magnitude0
ClinVar
Risk rs876657410(;)
Alt rs876657410(;)
Reference rs876657410(ACGGGGCA;ACGGGGCA)
Significance Pathogenic
Disease Marfan lipodystrophy syndrome
Variation info
Gene FBN1
CLNDBN Marfan lipodystrophy syndrome
Reversed 1
HGVS NC_000015.9:g.48704810_48704817delTGCCCCGT
CLNSRC OMIM Allelic Variant
CLNACC RCV000210932.1,