rs398124639

Orientation

plus

Stabilized

plus

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

Make rs398124639(-;-)

Make rs398124639(-;TCTGTC)

Reference

GRCh38 38.1/141

Chromosome

19

Position

48965330

Gene

FTL

is a	snp
is	mentioned by
dbSNP	rs398124639
dbSNP (classic)	rs398124639
ClinGen	rs398124639
ebi	rs398124639
HLI	rs398124639
Exac	rs398124639
Gnomad	rs398124639
Varsome	rs398124639
LitVar	rs398124639
Map	rs398124639
PheGenI	rs398124639
Biobank	rs398124639
1000 genomes	rs398124639
hgdp	rs398124639
ensembl	rs398124639
geneview	rs398124639
scholar	rs398124639
google	rs398124639
pharmgkb	rs398124639
gwascentral	rs398124639
openSNP	rs398124639
23andMe	rs398124639
SNPshot	rs398124639
SNPdbe	rs398124639
MSV3d	rs398124639
GWAS Ctlg	rs398124639

Max Magnitude

0

ClinVar
Risk	rs398124639(-;-)
Alt	rs398124639(-;-)
Reference	Rs398124639(TCTGTC;TCTGTC)
Significance	Pathogenic
Disease	Hyperferritinemia cataract syndrome
Variation	info
Gene	FTL
CLNDBN	Hyperferritinemia cataract syndrome
Reversed	0
HGVS	NC_000019.9:g.49468587_49468592delTCTGTC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000017948.30,