rs1057518881

Orientation

minus

Stabilized

minus

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

Make rs1057518881(G;T)

Make rs1057518881(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

48513656

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs1057518881
dbSNP (classic)	rs1057518881
ClinGen	rs1057518881
ebi	rs1057518881
HLI	rs1057518881
Exac	rs1057518881
Gnomad	rs1057518881
Varsome	rs1057518881
LitVar	rs1057518881
Map	rs1057518881
PheGenI	rs1057518881
Biobank	rs1057518881
1000 genomes	rs1057518881
hgdp	rs1057518881
ensembl	rs1057518881
geneview	rs1057518881
scholar	rs1057518881
google	rs1057518881
pharmgkb	rs1057518881
gwascentral	rs1057518881
openSNP	rs1057518881
23andMe	rs1057518881
SNPshot	rs1057518881
SNPdbe	rs1057518881
MSV3d	rs1057518881
GWAS Ctlg	rs1057518881

Max Magnitude

0

ClinVar
Risk	rs1057518881(A;A) rs1057518881(T;T)
Alt	rs1057518881(A;A) rs1057518881(T;T)
Reference	Rs1057518881(G;G)
Significance	Probable-Pathogenic
Disease	Lens subluxation Myopia Pectus carinatum Tall stature not provided
Variation	info
Gene	FBN1
CLNDBN	Lens subluxation Myopia Pectus carinatum Tall stature not provided
Reversed	1
HGVS	NC_000015.9:g.48805853C>A; NC_000015.9:g.48805853C>T
CLNSRC
CLNACC	RCV000414981.1, RCV000423905.1,