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rs398124640

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs398124640(-;-)
Make rs398124640(-;GGCCCGGAGGCTGGGC)
Make rs398124640(GGCCCGGAGGCTGGGC;GGCCCGGAGGCTGGGC)
ReferenceGRCh38 38.1/141
Chromosome19
Position48966691
GeneFTL
is asnp
is mentioned by
dbSNPrs398124640
ebirs398124640
HLIrs398124640
Exacrs398124640
Varsomers398124640
Maprs398124640
PheGenIrs398124640
hapmaprs398124640
1000 genomesrs398124640
hgdprs398124640
ensemblrs398124640
gopubmedrs398124640
geneviewrs398124640
scholarrs398124640
googlers398124640
pharmgkbrs398124640
gwascentralrs398124640
openSNPrs398124640
23andMers398124640
23andMe allrs398124640
SNP Nexus

SNPshotrs398124640
SNPdbers398124640
MSV3drs398124640
GWAS Ctlgrs398124640
Max Magnitude0
ClinVar
Risk rs398124640(GGCCCGGAGGCTGGGC;GGCCCGGAGGCTGGGC)
Alt rs398124640(GGCCCGGAGGCTGGGC;GGCCCGGAGGCTGGGC)
Reference rs398124640(;)
Significance Pathogenic
Disease Neuroferritinopathy
Variation info
Gene FTL
CLNDBN Neuroferritinopathy
Reversed 0
HGVS NC_000019.9:g.49469933_49469948dup16
CLNSRC OMIM Allelic Variant
CLNACC RCV000017952.24,