rs104894685

Orientation

plus

Stabilized

plus

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

Make rs104894685(A;A)

Make rs104894685(A;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

48966317

Gene

FTL

is a	snp
is	mentioned by
dbSNP	rs104894685
dbSNP (classic)	rs104894685
ClinGen	rs104894685
ebi	rs104894685
HLI	rs104894685
Exac	rs104894685
Gnomad	rs104894685
Varsome	rs104894685
LitVar	rs104894685
Map	rs104894685
PheGenI	rs104894685
Biobank	rs104894685
1000 genomes	rs104894685
hgdp	rs104894685
ensembl	rs104894685
geneview	rs104894685
scholar	rs104894685
google	rs104894685
pharmgkb	rs104894685
gwascentral	rs104894685
openSNP	rs104894685
23andMe	rs104894685
SNPshot	rs104894685
SNPdbe	rs104894685
MSV3d	rs104894685
GWAS Ctlg	rs104894685

Max Magnitude

0

OMIM	134790
Desc
Variant	0013
Related	also

ClinVar
Risk	rs104894685(A;A)
Alt	rs104894685(A;A)
Reference	Rs104894685(G;G)
Significance	Pathogenic
Disease	Neuroferritinopathy
Variation	info
Gene	FTL
CLNDBN	Neuroferritinopathy
Reversed	0
HGVS	NC_000019.9:g.49469574G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017950.24,