rs864309713

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;-)	0	common in clinvar

Make rs864309713(-;A)

Make rs864309713(A;A)

Reference

GRCh38.p2 38.2/146

Chromosome

15

Position

48463993

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs864309713
dbSNP (classic)	rs864309713
ClinGen	rs864309713
ebi	rs864309713
HLI	rs864309713
Exac	rs864309713
Gnomad	rs864309713
Varsome	rs864309713
LitVar	rs864309713
Map	rs864309713
PheGenI	rs864309713
Biobank	rs864309713
1000 genomes	rs864309713
hgdp	rs864309713
ensembl	rs864309713
geneview	rs864309713
scholar	rs864309713
google	rs864309713
pharmgkb	rs864309713
gwascentral	rs864309713
openSNP	rs864309713
23andMe	rs864309713
SNPshot	rs864309713
SNPdbe	rs864309713
MSV3d	rs864309713
GWAS Ctlg	rs864309713

Max Magnitude

0

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,