rs193922185

Orientation

minus

Stabilized

minus

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

Make rs193922185(C;T)

Make rs193922185(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48505037

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs193922185
dbSNP (classic)	rs193922185
ClinGen	rs193922185
ebi	rs193922185
HLI	rs193922185
Exac	rs193922185
Gnomad	rs193922185
Varsome	rs193922185
LitVar	rs193922185
Map	rs193922185
PheGenI	rs193922185
Biobank	rs193922185
1000 genomes	rs193922185
hgdp	rs193922185
ensembl	rs193922185
geneview	rs193922185
scholar	rs193922185
google	rs193922185
pharmgkb	rs193922185
gwascentral	rs193922185
openSNP	rs193922185
23andMe	rs193922185
SNPshot	rs193922185
SNPdbe	rs193922185
MSV3d	rs193922185
GWAS Ctlg	rs193922185

Max Magnitude

0

ClinVar
Risk	rs193922185(T;T)
Alt	rs193922185(T;T)
Reference	Rs193922185(C;C)
Significance	Probable-Pathogenic
Disease	Marfan syndrome not provided
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome not provided
Reversed	1
HGVS	NC_000015.9:g.48797234G>A
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029702.1, RCV000493360.1,