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rs398124639

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TCTGTC;TCTGTC) 0 common in clinvar
Make rs398124639(-;-)
Make rs398124639(-;TCTGTC)
ReferenceGRCh38 38.1/141
Chromosome19
Position48965330
GeneFTL
is asnp
is mentioned by
dbSNPrs398124639
ebirs398124639
HLIrs398124639
Exacrs398124639
Varsomers398124639
Maprs398124639
PheGenIrs398124639
hapmaprs398124639
1000 genomesrs398124639
hgdprs398124639
ensemblrs398124639
gopubmedrs398124639
geneviewrs398124639
scholarrs398124639
googlers398124639
pharmgkbrs398124639
gwascentralrs398124639
openSNPrs398124639
23andMers398124639
23andMe allrs398124639
SNP Nexus

SNPshotrs398124639
SNPdbers398124639
MSV3drs398124639
GWAS Ctlgrs398124639
Max Magnitude0
ClinVar
Risk rs398124639(;)
Alt rs398124639(;)
Reference rs398124639(TCTGTC;TCTGTC)
Significance Pathogenic
Disease Hyperferritinemia cataract syndrome
Variation info
Gene FTL
CLNDBN Hyperferritinemia cataract syndrome
Reversed 0
HGVS NC_000019.9:g.49468587_49468592delTCTGTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000017948.29,