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rs398124634

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398124634(C;C)
Make rs398124634(C;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position48965349
GeneFTL
is asnp
is mentioned by
dbSNPrs398124634
ebirs398124634
HLIrs398124634
Exacrs398124634
Varsomers398124634
Maprs398124634
PheGenIrs398124634
hapmaprs398124634
1000 genomesrs398124634
hgdprs398124634
ensemblrs398124634
gopubmedrs398124634
geneviewrs398124634
scholarrs398124634
googlers398124634
pharmgkbrs398124634
gwascentralrs398124634
openSNPrs398124634
23andMers398124634
23andMe allrs398124634
SNP Nexus

SNPshotrs398124634
SNPdbers398124634
MSV3drs398124634
GWAS Ctlgrs398124634
Max Magnitude0
ClinVar
Risk rs398124634(C;C)
Alt rs398124634(C;C)
Reference rs398124634(G;G)
Significance Pathogenic
Disease Hyperferritinemia cataract syndrome
Variation info
Gene FTL
CLNDBN Hyperferritinemia cataract syndrome
Reversed 0
HGVS NC_000019.9:g.49468606G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000017939.27,