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rs886037623

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs886037623(G;G)
Make rs886037623(G;T)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position48965330
GeneFTL
is asnp
is mentioned by
dbSNPrs886037623
dbSNP (classic)rs886037623
ClinGenrs886037623
ebirs886037623
HLIrs886037623
Exacrs886037623
Gnomadrs886037623
Varsomers886037623
LitVarrs886037623
Maprs886037623
PheGenIrs886037623
Biobankrs886037623
1000 genomesrs886037623
hgdprs886037623
ensemblrs886037623
geneviewrs886037623
scholarrs886037623
googlers886037623
pharmgkbrs886037623
gwascentralrs886037623
openSNPrs886037623
23andMers886037623
SNPshotrs886037623
SNPdbers886037623
MSV3drs886037623
GWAS Ctlgrs886037623
Max Magnitude0
ClinVar
Risk rs886037623(G;G)
Alt rs886037623(G;G)
Reference Rs886037623(T;T)
Significance Pathogenic
Disease Hyperferritinemia cataract syndrome
Variation info
Gene FTL
CLNDBN Hyperferritinemia cataract syndrome
Reversed 0
HGVS NC_000019.9:g.49468587T>G
CLNSRC
CLNACC RCV000017941.28,