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rs397514540

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514540(C;T)
Make rs397514540(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position48965596
GeneFTL
is asnp
is mentioned by
dbSNPrs397514540
ebirs397514540
HLIrs397514540
Exacrs397514540
Varsomers397514540
Maprs397514540
PheGenIrs397514540
hapmaprs397514540
1000 genomesrs397514540
hgdprs397514540
ensemblrs397514540
gopubmedrs397514540
geneviewrs397514540
scholarrs397514540
googlers397514540
pharmgkbrs397514540
gwascentralrs397514540
openSNPrs397514540
23andMers397514540
23andMe allrs397514540
SNP Nexus

SNPshotrs397514540
SNPdbers397514540
MSV3drs397514540
GWAS Ctlgrs397514540
Max Magnitude0
ClinVar
Risk rs397514540(T;T)
Alt rs397514540(T;T)
Reference rs397514540(C;C)
Significance Pathogenic
Disease Hyperferritinemia cataract syndrome
Variation info
Gene FTL
CLNDBN Hyperferritinemia cataract syndrome
Reversed 0
HGVS NC_000019.9:g.49468853C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000032783.28,