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rs864309713

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs864309713(-;A)
Make rs864309713(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position48463993
GeneFBN1
is asnp
is mentioned by
dbSNPrs864309713
dbSNP (old)rs864309713
ClinGenrs864309713
ebirs864309713
HLIrs864309713
Exacrs864309713
Gnomadrs864309713
Varsomers864309713
Maprs864309713
PheGenIrs864309713
Biobankrs864309713
1000 genomesrs864309713
hgdprs864309713
ensemblrs864309713
gopubmedrs864309713
geneviewrs864309713
scholarrs864309713
googlers864309713
pharmgkbrs864309713
gwascentralrs864309713
openSNPrs864309713
23andMers864309713
23andMe allrs864309713
SNP Nexus

SNPshotrs864309713
SNPdbers864309713
MSV3drs864309713
GWAS Ctlgrs864309713
Max Magnitude0
ClinVar
Risk rs864309713(A;A)
Alt rs864309713(A;A)
Reference Rs864309713(-;-)
Significance Probable-Pathogenic
Disease Congenital diaphragmatic hernia
Variation info
Gene FBN1
CLNDBN Congenital diaphragmatic hernia
Reversed 1
HGVS NC_000015.9:g.48756190_48756191insT
CLNSRC
CLNACC RCV000203287.1,