rs193922242

Orientation

minus

Stabilized

minus

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

Make rs193922242(A;G)

Make rs193922242(G;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48412576

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs193922242
dbSNP (classic)	rs193922242
ClinGen	rs193922242
ebi	rs193922242
HLI	rs193922242
Exac	rs193922242
Gnomad	rs193922242
Varsome	rs193922242
LitVar	rs193922242
Map	rs193922242
PheGenI	rs193922242
Biobank	rs193922242
1000 genomes	rs193922242
hgdp	rs193922242
ensembl	rs193922242
geneview	rs193922242
scholar	rs193922242
google	rs193922242
pharmgkb	rs193922242
gwascentral	rs193922242
openSNP	rs193922242
23andMe	rs193922242
SNPshot	rs193922242
SNPdbe	rs193922242
MSV3d	rs193922242
GWAS Ctlg	rs193922242

Max Magnitude

0

ClinVar
Risk	rs193922242(G;G)
Alt	rs193922242(G;G)
Reference	Rs193922242(A;A)
Significance	Probable-Pathogenic
Disease	Marfan syndrome not specified
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome not specified
Reversed	1
HGVS	NC_000015.9:g.48704773T>C
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029789.1, RCV000035286.2,