rs137854472

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	5.5	Marfan syndrome mutation

Make rs137854472(G;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48488448

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs137854472
dbSNP (classic)	rs137854472
ClinGen	rs137854472
ebi	rs137854472
HLI	rs137854472
Exac	rs137854472
Gnomad	rs137854472
Varsome	rs137854472
LitVar	rs137854472
Map	rs137854472
PheGenI	rs137854472
Biobank	rs137854472
1000 genomes	rs137854472
hgdp	rs137854472
ensembl	rs137854472
geneview	rs137854472
scholar	rs137854472
google	rs137854472
pharmgkb	rs137854472
gwascentral	rs137854472
openSNP	rs137854472
23andMe	rs137854472
SNPshot	rs137854472
SNPdbe	rs137854472
MSV3d	rs137854472
GWAS Ctlg	rs137854472

Max Magnitude

5.5

OMIM	134797
Desc
Variant	0027
Related	also

ClinVar
Risk	rs137854472(G;G)
Alt	rs137854472(G;G)
Reference	Rs137854472(A;A)
Significance	Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome, neonatal
Reversed	1
HGVS	NC_000015.9:g.48780645T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000017909.28,