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rs398124637

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398124637(A;A)
Make rs398124637(A;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position48965344
GeneFTL
is asnp
is mentioned by
dbSNPrs398124637
ebirs398124637
HLIrs398124637
Exacrs398124637
Varsomers398124637
Maprs398124637
PheGenIrs398124637
hapmaprs398124637
1000 genomesrs398124637
hgdprs398124637
ensemblrs398124637
gopubmedrs398124637
geneviewrs398124637
scholarrs398124637
googlers398124637
pharmgkbrs398124637
gwascentralrs398124637
openSNPrs398124637
23andMers398124637
23andMe allrs398124637
SNP Nexus

SNPshotrs398124637
SNPdbers398124637
MSV3drs398124637
GWAS Ctlgrs398124637
Max Magnitude0
ClinVar
Risk rs398124637(A,T;A,T)
Alt rs398124637(A,T;A,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, RCV000082859.3,