rs1057518909

Orientation

minus

Stabilized

minus

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

Make rs1057518909(-;-)

Make rs1057518909(-;TGAA)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

48534099

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs1057518909
dbSNP (classic)	rs1057518909
ClinGen	rs1057518909
ebi	rs1057518909
HLI	rs1057518909
Exac	rs1057518909
Gnomad	rs1057518909
Varsome	rs1057518909
LitVar	rs1057518909
Map	rs1057518909
PheGenI	rs1057518909
Biobank	rs1057518909
1000 genomes	rs1057518909
hgdp	rs1057518909
ensembl	rs1057518909
geneview	rs1057518909
scholar	rs1057518909
google	rs1057518909
pharmgkb	rs1057518909
gwascentral	rs1057518909
openSNP	rs1057518909
23andMe	rs1057518909
SNPshot	rs1057518909
SNPdbe	rs1057518909
MSV3d	rs1057518909
GWAS Ctlg	rs1057518909

Max Magnitude

0

ClinVar
Risk	rs1057518909(-;-)
Alt	rs1057518909(-;-)
Reference	Rs1057518909(TGAA;TGAA)
Significance	Pathogenic
Disease	Inguinal hernia Joint hypermobility Myopia Pectus excavatum Tall stature
Variation	info
Gene	FBN1
CLNDBN	Inguinal hernia Joint hypermobility Myopia Pectus excavatum Tall stature
Reversed	1
HGVS	NC_000015.9:g.48826296_48826299delTTCA
CLNSRC
CLNACC	RCV000415067.1,