Have questions? Visit https://www.reddit.com/r/SNPedia

rs139732572

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs139732572(A;G)
Make rs139732572(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position48965508
GeneFTL
is asnp
is mentioned by
dbSNPrs139732572
dbSNP (classic)rs139732572
ClinGenrs139732572
ebirs139732572
HLIrs139732572
Exacrs139732572
Gnomadrs139732572
Varsomers139732572
LitVarrs139732572
Maprs139732572
PheGenIrs139732572
Biobankrs139732572
1000 genomesrs139732572
hgdprs139732572
ensemblrs139732572
geneviewrs139732572
scholarrs139732572
googlers139732572
pharmgkbrs139732572
gwascentralrs139732572
openSNPrs139732572
23andMers139732572
SNPshotrs139732572
SNPdbers139732572
MSV3drs139732572
GWAS Ctlgrs139732572
Max Magnitude0
ClinVar
Risk rs139732572(G;G)
Alt rs139732572(G;G)
Reference Rs139732572(A;A)
Significance Pathogenic
Disease L-ferritin deficiency
Variation info
Gene FTL
CLNDBN L-ferritin deficiency
Reversed 0
HGVS NC_000019.9:g.49468765A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000082857.3,