rs199869995

Orientation

plus

Stabilized

plus

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

Make rs199869995(C;C)

Make rs199869995(C;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

48966341

Gene

FTL

is a	snp
is	mentioned by
dbSNP	rs199869995
dbSNP (classic)	rs199869995
ClinGen	rs199869995
ebi	rs199869995
HLI	rs199869995
Exac	rs199869995
Gnomad	rs199869995
Varsome	rs199869995
LitVar	rs199869995
Map	rs199869995
PheGenI	rs199869995
Biobank	rs199869995
1000 genomes	rs199869995
hgdp	rs199869995
ensembl	rs199869995
geneview	rs199869995
scholar	rs199869995
google	rs199869995
pharmgkb	rs199869995
gwascentral	rs199869995
openSNP	rs199869995
23andMe	rs199869995
SNPshot	rs199869995
SNPdbe	rs199869995
MSV3d	rs199869995
GWAS Ctlg	rs199869995

Max Magnitude

0

ClinVar
Risk	rs199869995(C;C) rs199869995(T;T)
Alt	rs199869995(C;C) rs199869995(T;T)
Reference	Rs199869995(G;G)
Significance	Pathogenic
Disease	L-ferritin deficiency
Variation	info
Gene	FTL
CLNDBN	L-ferritin deficiency, autosomal recessive
Reversed	0
HGVS	NC_000019.9:g.49469598G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000082858.3,