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rs886037622

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs886037622(C;T)
Make rs886037622(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position48965326
GeneFTL
is asnp
is mentioned by
dbSNPrs886037622
dbSNP (classic)rs886037622
ClinGenrs886037622
ebirs886037622
HLIrs886037622
Exacrs886037622
Gnomadrs886037622
Varsomers886037622
LitVarrs886037622
Maprs886037622
PheGenIrs886037622
Biobankrs886037622
1000 genomesrs886037622
hgdprs886037622
ensemblrs886037622
geneviewrs886037622
scholarrs886037622
googlers886037622
pharmgkbrs886037622
gwascentralrs886037622
openSNPrs886037622
23andMers886037622
SNPshotrs886037622
SNPdbers886037622
MSV3drs886037622
GWAS Ctlgrs886037622
Max Magnitude0
ClinVar
Risk rs886037622(T;T)
Alt rs886037622(T;T)
Reference Rs886037622(C;C)
Significance Pathogenic
Disease Hyperferritinemia cataract syndrome
Variation info
Gene FTL
CLNDBN Hyperferritinemia cataract syndrome
Reversed 0
HGVS NC_000019.9:g.49468583C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017941.28,