rs587776863

Orientation

plus

Stabilized

plus

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

Make rs587776863(-;TGT)

Make rs587776863(TGT;TGT)

Reference

GRCh38 38.1/142

Chromosome

15

Position

48463104

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs587776863
dbSNP (classic)	rs587776863
ClinGen	rs587776863
ebi	rs587776863
HLI	rs587776863
Exac	rs587776863
Gnomad	rs587776863
Varsome	rs587776863
LitVar	rs587776863
Map	rs587776863
PheGenI	rs587776863
Biobank	rs587776863
1000 genomes	rs587776863
hgdp	rs587776863
ensembl	rs587776863
geneview	rs587776863
scholar	rs587776863
google	rs587776863
pharmgkb	rs587776863
gwascentral	rs587776863
openSNP	rs587776863
23andMe	rs587776863
SNPshot	rs587776863
SNPdbe	rs587776863
MSV3d	rs587776863
GWAS Ctlg	rs587776863

Max Magnitude

0

aka c.5202_5204dup

ClinVar
Risk	rs587776863(TGT;TGT)
Alt	rs587776863(TGT;TGT)
Reference	Rs587776863(-;-)
Significance	Pathogenic
Disease	Acromicric dysplasia
Variation	info
Gene	FBN1
CLNDBN	Acromicric dysplasia
Reversed	0
HGVS	NC_000015.9:g.48755299_48755301dupTGT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000022551.28,