rs2230267

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0.5	benign most likely
(C;T)	0.5	benign most likely
(T;T)	0	common in clinvar

Reference

GRCh38 38.1/142

Chromosome

19

Position

48965830

Gene

FTL

is a	snp
is	mentioned by
dbSNP	rs2230267
dbSNP (classic)	rs2230267
ClinGen	rs2230267
ebi	rs2230267
HLI	rs2230267
Exac	rs2230267
Gnomad	rs2230267
Varsome	rs2230267
LitVar	rs2230267
Map	rs2230267
PheGenI	rs2230267
Biobank	rs2230267
1000 genomes	rs2230267
hgdp	rs2230267
ensembl	rs2230267
geneview	rs2230267
scholar	rs2230267
google	rs2230267
pharmgkb	rs2230267
gwascentral	rs2230267
openSNP	rs2230267
23andMe	rs2230267
SNPshot	rs2230267
SNPdbe	rs2230267
MSV3d	rs2230267
GWAS Ctlg	rs2230267

Max Magnitude

0.5

ClinVar
Risk	Rs2230267(C;C)
Alt	Rs2230267(C;C)
Reference	Rs2230267(T;T)
Significance	Probable-Pathogenic
Disease	sporadic abdominal aortic aneurysm not specified Neuroferritinopathy Hyperferritinemia cataract syndrome Glycogen storage disease 0
Variation	info
Gene	FTL
CLNDBN	sporadic abdominal aortic aneurysm not specified Neuroferritinopathy Hyperferritinemia cataract syndrome Glycogen storage disease 0, muscle
Reversed	0
HGVS	NC_000019.9:g.49469087T>C
CLNSRC	ClinVar University of Chicago
CLNACC	RCV000144503.1, RCV000146000.2, RCV000315169.1, RCV000369896.1, RCV000370536.1,