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rs104894685

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894685(A;A)
Make rs104894685(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position48966317
GeneFTL
is asnp
is mentioned by
dbSNPrs104894685
ebirs104894685
HLIrs104894685
Exacrs104894685
Varsomers104894685
Maprs104894685
PheGenIrs104894685
hapmaprs104894685
1000 genomesrs104894685
hgdprs104894685
ensemblrs104894685
gopubmedrs104894685
geneviewrs104894685
scholarrs104894685
googlers104894685
pharmgkbrs104894685
gwascentralrs104894685
openSNPrs104894685
23andMers104894685
23andMe allrs104894685
SNP Nexus

SNPshotrs104894685
SNPdbers104894685
MSV3drs104894685
GWAS Ctlgrs104894685
Max Magnitude0
OMIM134790
Desc
Variant0013
Relatedalso
ClinVar
Risk rs104894685(A;A)
Alt rs104894685(A;A)
Reference rs104894685(G;G)
Significance Pathogenic
Disease Neuroferritinopathy
Variation info
Gene FTL
CLNDBN Neuroferritinopathy
Reversed 0
HGVS NC_000019.9:g.49469574G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017950.24,