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rs398124633

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs398124633(A;G)
Make rs398124633(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position48965348
GeneFTL
is asnp
is mentioned by
dbSNPrs398124633
ebirs398124633
HLIrs398124633
Exacrs398124633
Varsomers398124633
Maprs398124633
PheGenIrs398124633
hapmaprs398124633
1000 genomesrs398124633
hgdprs398124633
ensemblrs398124633
gopubmedrs398124633
geneviewrs398124633
scholarrs398124633
googlers398124633
pharmgkbrs398124633
gwascentralrs398124633
openSNPrs398124633
23andMers398124633
23andMe allrs398124633
SNP Nexus

SNPshotrs398124633
SNPdbers398124633
MSV3drs398124633
GWAS Ctlgrs398124633
Max Magnitude0
ClinVar
Risk rs398124633(G;G)
Alt rs398124633(G;G)
Reference rs398124633(A;A)
Significance Pathogenic
Disease Hyperferritinemia cataract syndrome
Variation info
Gene FTL
CLNDBN Hyperferritinemia cataract syndrome
Reversed 0
HGVS NC_000019.9:g.49468605A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017938.25,