rs398124635

plus

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

Make rs398124635(A;A)

Make rs398124635(A;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

48965340

Gene

FTL

is a	snp
is	mentioned by
dbSNP	rs398124635
dbSNP (classic)	rs398124635
ClinGen	rs398124635
ebi	rs398124635
HLI	rs398124635
Exac	rs398124635
Gnomad	rs398124635
Varsome	rs398124635
LitVar	rs398124635
Map	rs398124635
PheGenI	rs398124635
Biobank	rs398124635
1000 genomes	rs398124635
hgdp	rs398124635
ensembl	rs398124635
geneview	rs398124635
scholar	rs398124635
google	rs398124635
pharmgkb	rs398124635
gwascentral	rs398124635
openSNP	rs398124635
23andMe	rs398124635
SNPshot	rs398124635
SNPdbe	rs398124635
MSV3d	rs398124635
GWAS Ctlg	rs398124635

Max Magnitude

0

[PMID 27569544 ] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.

ClinVar
Risk	rs398124635(A;A) rs398124635(C;C) rs398124635(T;T)
Alt	rs398124635(A;A) rs398124635(C;C) rs398124635(T;T)
Reference	Rs398124635(G;G)
Significance	Pathogenic
Disease	Hyperferritinemia cataract syndrome
Variation	info
Gene	FTL
CLNDBN	Hyperferritinemia cataract syndrome
Reversed	0
HGVS	NC_000019.9:g.49468597G>A; NC_000019.9:g.49468597G>C; NC_000019.9:g.49468597G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000017940.30, RCV000017949.30, RCV000017943.30,