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rs201241191

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs201241191(A;A)
Make rs201241191(A;G)
ReferenceGRCh38 38.1/142
Chromosome19
Position48965836
GeneFTL
is asnp
is mentioned by
dbSNPrs201241191
dbSNP (classic)rs201241191
ClinGenrs201241191
ebirs201241191
HLIrs201241191
Exacrs201241191
Gnomadrs201241191
Varsomers201241191
LitVarrs201241191
Maprs201241191
PheGenIrs201241191
Biobankrs201241191
1000 genomesrs201241191
hgdprs201241191
ensemblrs201241191
geneviewrs201241191
scholarrs201241191
googlers201241191
pharmgkbrs201241191
gwascentralrs201241191
openSNPrs201241191
23andMers201241191
SNPshotrs201241191
SNPdbers201241191
MSV3drs201241191
GWAS Ctlgrs201241191
Max Magnitude0
ClinVar
Risk rs201241191(A;A)
Alt rs201241191(A;A)
Reference Rs201241191(G;G)
Significance Probable-Pathogenic
Disease sporadic abdominal aortic aneurysm Neuroferritinopathy Hyperferritinemia cataract syndrome
Variation info
Gene FTL
CLNDBN sporadic abdominal aortic aneurysm Neuroferritinopathy Hyperferritinemia cataract syndrome
Reversed 0
HGVS NC_000019.9:g.49469093G>A
CLNSRC ClinVar
CLNACC RCV000144502.1, RCV000311515.1, RCV000395171.1,