rs1060503511

Orientation

minus

Stabilized

minus

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

Make rs1060503511(A;A)

Make rs1060503511(A;C)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

128330633

Gene

FBN2

is a	snp
is	mentioned by
dbSNP	rs1060503511
dbSNP (classic)	rs1060503511
ClinGen	rs1060503511
ebi	rs1060503511
HLI	rs1060503511
Exac	rs1060503511
Gnomad	rs1060503511
Varsome	rs1060503511
LitVar	rs1060503511
Map	rs1060503511
PheGenI	rs1060503511
Biobank	rs1060503511
1000 genomes	rs1060503511
hgdp	rs1060503511
ensembl	rs1060503511
geneview	rs1060503511
scholar	rs1060503511
google	rs1060503511
pharmgkb	rs1060503511
gwascentral	rs1060503511
openSNP	rs1060503511
23andMe	rs1060503511
SNPshot	rs1060503511
SNPdbe	rs1060503511
MSV3d	rs1060503511
GWAS Ctlg	rs1060503511

Max Magnitude

0

ClinVar
Risk	rs1060503511(A;A)
Alt	rs1060503511(A;A)
Reference	Rs1060503511(C;C)
Significance	Probable-Pathogenic
Disease	Congenital contractural arachnodactyly
Variation	info
Gene	FBN2
CLNDBN	Congenital contractural arachnodactyly
Reversed	1
HGVS	NC_000005.9:g.127666325G>T
CLNSRC
CLNACC	RCV000475898.1,