rs398124637

plus

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

Make rs398124637(A;A)

Make rs398124637(A;C)

Reference

GRCh38 38.1/141

Chromosome

19

Position

48965344

Gene

FTL

is a	snp
is	mentioned by
dbSNP	rs398124637
dbSNP (classic)	rs398124637
ClinGen	rs398124637
ebi	rs398124637
HLI	rs398124637
Exac	rs398124637
Gnomad	rs398124637
Varsome	rs398124637
LitVar	rs398124637
Map	rs398124637
PheGenI	rs398124637
Biobank	rs398124637
1000 genomes	rs398124637
hgdp	rs398124637
ensembl	rs398124637
geneview	rs398124637
scholar	rs398124637
google	rs398124637
pharmgkb	rs398124637
gwascentral	rs398124637
openSNP	rs398124637
23andMe	rs398124637
SNPshot	rs398124637
SNPdbe	rs398124637
MSV3d	rs398124637
GWAS Ctlg	rs398124637

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	rs398124637(A;A) rs398124637(T;T)
Alt	rs398124637(A;A) rs398124637(T;T)
Reference	Rs398124637(C;C)
Significance	Pathogenic
Disease	Hyperferritinemia cataract syndrome
Variation	info
Gene	FTL
CLNDBN	Hyperferritinemia cataract syndrome
Reversed	0
HGVS	NC_000019.9:g.49468601C>A; NC_000019.9:g.49468601C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000017945.29, RCV000082859.4,