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rs587776840

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs587776840(-;A)
Make rs587776840(A;A)
ReferenceGRCh38 38.1/142
Chromosome19
Position48966665
GeneFTL
is asnp
is mentioned by
dbSNPrs587776840
dbSNP (classic)rs587776840
ClinGenrs587776840
ebirs587776840
HLIrs587776840
Exacrs587776840
Gnomadrs587776840
Varsomers587776840
LitVarrs587776840
Maprs587776840
PheGenIrs587776840
Biobankrs587776840
1000 genomesrs587776840
hgdprs587776840
ensemblrs587776840
geneviewrs587776840
scholarrs587776840
googlers587776840
pharmgkbrs587776840
gwascentralrs587776840
openSNPrs587776840
23andMers587776840
SNPshotrs587776840
SNPdbers587776840
MSV3drs587776840
GWAS Ctlgrs587776840
Max Magnitude0
ClinVar
Risk rs587776840(A;A)
Alt rs587776840(A;A)
Reference Rs587776840(-;-)
Significance Pathogenic
Disease Neuroferritinopathy
Variation info
Gene FTL
CLNDBN Neuroferritinopathy
Reversed 0
HGVS NC_000019.9:g.49469922dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000017953.29,