rs397514540

Orientation

plus

Stabilized

plus

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

Make rs397514540(C;T)

Make rs397514540(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

48965596

Gene

FTL

is a	snp
is	mentioned by
dbSNP	rs397514540
dbSNP (classic)	rs397514540
ClinGen	rs397514540
ebi	rs397514540
HLI	rs397514540
Exac	rs397514540
Gnomad	rs397514540
Varsome	rs397514540
LitVar	rs397514540
Map	rs397514540
PheGenI	rs397514540
Biobank	rs397514540
1000 genomes	rs397514540
hgdp	rs397514540
ensembl	rs397514540
geneview	rs397514540
scholar	rs397514540
google	rs397514540
pharmgkb	rs397514540
gwascentral	rs397514540
openSNP	rs397514540
23andMe	rs397514540
SNPshot	rs397514540
SNPdbe	rs397514540
MSV3d	rs397514540
GWAS Ctlg	rs397514540

Max Magnitude

0

ClinVar
Risk	rs397514540(T;T)
Alt	rs397514540(T;T)
Reference	Rs397514540(C;C)
Significance	Pathogenic
Disease	Hyperferritinemia cataract syndrome
Variation	info
Gene	FTL
CLNDBN	Hyperferritinemia cataract syndrome
Reversed	0
HGVS	NC_000019.9:g.49468853C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000032783.29,