rs1060503498

Orientation

minus

Stabilized

minus

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

Make rs1060503498(A;A)

Make rs1060503498(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

128332911

Gene

FBN2

is a	snp
is	mentioned by
dbSNP	rs1060503498
dbSNP (classic)	rs1060503498
ClinGen	rs1060503498
ebi	rs1060503498
HLI	rs1060503498
Exac	rs1060503498
Gnomad	rs1060503498
Varsome	rs1060503498
LitVar	rs1060503498
Map	rs1060503498
PheGenI	rs1060503498
Biobank	rs1060503498
1000 genomes	rs1060503498
hgdp	rs1060503498
ensembl	rs1060503498
geneview	rs1060503498
scholar	rs1060503498
google	rs1060503498
pharmgkb	rs1060503498
gwascentral	rs1060503498
openSNP	rs1060503498
23andMe	rs1060503498
SNPshot	rs1060503498
SNPdbe	rs1060503498
MSV3d	rs1060503498
GWAS Ctlg	rs1060503498

Max Magnitude

0

ClinVar
Risk	rs1060503498(A;A)
Alt	rs1060503498(A;A)
Reference	Rs1060503498(G;G)
Significance	Probable-Pathogenic
Disease	Congenital contractural arachnodactyly
Variation	info
Gene	FBN2
CLNDBN	Congenital contractural arachnodactyly
Reversed	1
HGVS	NC_000005.9:g.127668603C>T
CLNSRC
CLNACC	RCV000459072.1,