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rs398124638

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398124638(C;C)
Make rs398124638(C;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position48965359
GeneFTL
is asnp
is mentioned by
dbSNPrs398124638
ebirs398124638
HLIrs398124638
Exacrs398124638
Varsomers398124638
Maprs398124638
PheGenIrs398124638
hapmaprs398124638
1000 genomesrs398124638
hgdprs398124638
ensemblrs398124638
gopubmedrs398124638
geneviewrs398124638
scholarrs398124638
googlers398124638
pharmgkbrs398124638
gwascentralrs398124638
openSNPrs398124638
23andMers398124638
23andMe allrs398124638
SNP Nexus

SNPshotrs398124638
SNPdbers398124638
MSV3drs398124638
GWAS Ctlgrs398124638
Max Magnitude0
ClinVar
Risk rs398124638(C;C)
Alt rs398124638(C;C)
Reference rs398124638(G;G)
Significance Pathogenic
Disease Hyperferritinemia cataract syndrome
Variation info
Gene FTL
CLNDBN Hyperferritinemia cataract syndrome
Reversed 0
HGVS NC_000019.9:g.49468616G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000017946.29,