rs193922227

Orientation

minus

Stabilized

minus

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

Make rs193922227(TGCAAGAA;TGCAAGAA)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48430741

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs193922227
dbSNP (classic)	rs193922227
ClinGen	rs193922227
ebi	rs193922227
HLI	rs193922227
Exac	rs193922227
Gnomad	rs193922227
Varsome	rs193922227
LitVar	rs193922227
Map	rs193922227
PheGenI	rs193922227
Biobank	rs193922227
1000 genomes	rs193922227
hgdp	rs193922227
ensembl	rs193922227
geneview	rs193922227
scholar	rs193922227
google	rs193922227
pharmgkb	rs193922227
gwascentral	rs193922227
openSNP	rs193922227
23andMe	rs193922227
SNPshot	rs193922227
SNPdbe	rs193922227
MSV3d	rs193922227
GWAS Ctlg	rs193922227

Max Magnitude

5.5

ClinVar
Risk	rs193922227(TGCAAGAA;TGCAAGAA)
Alt	rs193922227(TGCAAGAA;TGCAAGAA)
Reference	Rs193922227(-;-)
Significance	Probable-Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48722939_48722946dupTTCTTGCA
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029768.1,