rs193922220

Orientation

minus

Stabilized

minus

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

Make rs193922220(TGGATAC;TGGATAC)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48444565

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs193922220
dbSNP (classic)	rs193922220
ClinGen	rs193922220
ebi	rs193922220
HLI	rs193922220
Exac	rs193922220
Gnomad	rs193922220
Varsome	rs193922220
LitVar	rs193922220
Map	rs193922220
PheGenI	rs193922220
Biobank	rs193922220
1000 genomes	rs193922220
hgdp	rs193922220
ensembl	rs193922220
geneview	rs193922220
scholar	rs193922220
google	rs193922220
pharmgkb	rs193922220
gwascentral	rs193922220
openSNP	rs193922220
23andMe	rs193922220
SNPshot	rs193922220
SNPdbe	rs193922220
MSV3d	rs193922220
GWAS Ctlg	rs193922220

Max Magnitude

5.5

ClinVar
Risk	rs193922220(TGGATAC;TGGATAC)
Alt	rs193922220(TGGATAC;TGGATAC)
Reference	Rs193922220(-;-)
Significance	Probable-Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48736763_48736769dupGTATCCA
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029758.1,