rs398124640

Orientation

plus

Stabilized

plus

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

Make rs398124640(-;GGCCCGGAGGCTGGGC)

Make rs398124640(GGCCCGGAGGCTGGGC;GGCCCGGAGGCTGGGC)

Reference

GRCh38 38.1/141

Chromosome

19

Position

48966691

Gene

FTL

is a	snp
is	mentioned by
dbSNP	rs398124640
dbSNP (classic)	rs398124640
ClinGen	rs398124640
ebi	rs398124640
HLI	rs398124640
Exac	rs398124640
Gnomad	rs398124640
Varsome	rs398124640
LitVar	rs398124640
Map	rs398124640
PheGenI	rs398124640
Biobank	rs398124640
1000 genomes	rs398124640
hgdp	rs398124640
ensembl	rs398124640
geneview	rs398124640
scholar	rs398124640
google	rs398124640
pharmgkb	rs398124640
gwascentral	rs398124640
openSNP	rs398124640
23andMe	rs398124640
SNPshot	rs398124640
SNPdbe	rs398124640
MSV3d	rs398124640
GWAS Ctlg	rs398124640

Max Magnitude

0

ClinVar
Risk	rs398124640(GGCCCGGAGGCTGGGC;GGCCCGGAGGCTGGGC)
Alt	rs398124640(GGCCCGGAGGCTGGGC;GGCCCGGAGGCTGGGC)
Reference	Rs398124640(-;-)
Significance	Pathogenic
Disease	Neuroferritinopathy
Variation	info
Gene	FTL
CLNDBN	Neuroferritinopathy
Reversed	0
HGVS	NC_000019.9:g.49469933_49469948dup16
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000017952.24,