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rs398124636

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398124636(C;T)
Make rs398124636(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position48965347
GeneFTL
is asnp
is mentioned by
dbSNPrs398124636
ebirs398124636
HLIrs398124636
Exacrs398124636
Varsomers398124636
Maprs398124636
PheGenIrs398124636
hapmaprs398124636
1000 genomesrs398124636
hgdprs398124636
ensemblrs398124636
gopubmedrs398124636
geneviewrs398124636
scholarrs398124636
googlers398124636
pharmgkbrs398124636
gwascentralrs398124636
openSNPrs398124636
23andMers398124636
23andMe allrs398124636
SNP Nexus

SNPshotrs398124636
SNPdbers398124636
MSV3drs398124636
GWAS Ctlgrs398124636
Max Magnitude0
ClinVar
Risk rs398124636(T;T)
Alt rs398124636(T;T)
Reference rs398124636(C;C)
Significance Pathogenic
Disease Hyperferritinemia cataract syndrome
Variation info
Gene FTL
CLNDBN Hyperferritinemia cataract syndrome
Reversed 0
HGVS NC_000019.9:g.49468604C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017944.25,