rs397515785

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;TGGGATTTACC)	5.5	Marfan syndrome mutation
(CCTGGGATTTA;CCTGGGATTTA)	0	common/normal
(CTGGGATTTAC;CTGGGATTTAC)	0	common in clinvar
(TGGGATTTACC;TGGGATTTACC)	0	common in clinvar

Make rs397515785(-;-)

Make rs397515785(-;CCTGGGATTTA)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48644730

Gene	FBN1, LOC105370809

is a	snp
is	mentioned by
dbSNP	rs397515785
dbSNP (classic)	rs397515785
ClinGen	rs397515785
ebi	rs397515785
HLI	rs397515785
Exac	rs397515785
Gnomad	rs397515785
Varsome	rs397515785
LitVar	rs397515785
Map	rs397515785
PheGenI	rs397515785
Biobank	rs397515785
1000 genomes	rs397515785
hgdp	rs397515785
ensembl	rs397515785
geneview	rs397515785
scholar	rs397515785
google	rs397515785
pharmgkb	rs397515785
gwascentral	rs397515785
openSNP	rs397515785
23andMe	rs397515785
SNPshot	rs397515785
SNPdbe	rs397515785
MSV3d	rs397515785
GWAS Ctlg	rs397515785

Max Magnitude

5.5

ClinVar
Risk	rs397515785(-;-)
Alt	rs397515785(-;-)
Reference	Rs397515785(TGGGATTTACC;TGGGATTTACC)
Significance	Probable-Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48936925_48936935delGGTAAATCCCA
CLNSRC	ClinVar
CLNACC	RCV000035162.2,