rs193922181

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(-;TGTAATGCG)	5.5	Marfan syndrome mutation

Make rs193922181(TGTAATGCG;TGTAATGCG)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48510080

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs193922181
dbSNP (classic)	rs193922181
ClinGen	rs193922181
ebi	rs193922181
HLI	rs193922181
Exac	rs193922181
Gnomad	rs193922181
Varsome	rs193922181
LitVar	rs193922181
Map	rs193922181
PheGenI	rs193922181
Biobank	rs193922181
1000 genomes	rs193922181
hgdp	rs193922181
ensembl	rs193922181
geneview	rs193922181
scholar	rs193922181
google	rs193922181
pharmgkb	rs193922181
gwascentral	rs193922181
openSNP	rs193922181
23andMe	rs193922181
SNPshot	rs193922181
SNPdbe	rs193922181
MSV3d	rs193922181
GWAS Ctlg	rs193922181

Max Magnitude

5.5

ClinVar
Risk	rs193922181(TGTAATGCG;TGTAATGCG)
Alt	rs193922181(TGTAATGCG;TGTAATGCG)
Reference	Rs193922181(-;-)
Significance	Probable-Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48802278_48802286dupCGCATTACA
CLNSRC	ClinVar
CLNACC	RCV000029697.1,