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rs398124635

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398124635(A;A)
Make rs398124635(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position48965340
GeneFTL
is asnp
is mentioned by
dbSNPrs398124635
ebirs398124635
HLIrs398124635
Exacrs398124635
Varsomers398124635
Maprs398124635
PheGenIrs398124635
hapmaprs398124635
1000 genomesrs398124635
hgdprs398124635
ensemblrs398124635
gopubmedrs398124635
geneviewrs398124635
scholarrs398124635
googlers398124635
pharmgkbrs398124635
gwascentralrs398124635
openSNPrs398124635
23andMers398124635
23andMe allrs398124635
SNP Nexus

SNPshotrs398124635
SNPdbers398124635
MSV3drs398124635
GWAS Ctlgrs398124635
Max Magnitude0
ClinVar
Risk rs398124635(A,C,T;A,C,T)
Alt rs398124635(A,C,T;A,C,T)
Reference rs398124635(G;G)
Significance Pathogenic
Disease Hyperferritinemia cataract syndrome
Variation info
Gene FTL
CLNDBN Hyperferritinemia cataract syndrome
Reversed 0
HGVS NC_000019.9:g.49468597G>A; NC_000019.9:g.49468597G>C; NC_000019.9:g.49468597G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017940.29, RCV000017949.29, RCV000017943.29,