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rs199869995

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199869995(C;C)
Make rs199869995(C;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position48966341
GeneFTL
is asnp
is mentioned by
dbSNPrs199869995
ebirs199869995
HLIrs199869995
Exacrs199869995
Varsomers199869995
Maprs199869995
PheGenIrs199869995
hapmaprs199869995
1000 genomesrs199869995
hgdprs199869995
ensemblrs199869995
gopubmedrs199869995
geneviewrs199869995
scholarrs199869995
googlers199869995
pharmgkbrs199869995
gwascentralrs199869995
openSNPrs199869995
23andMers199869995
23andMe allrs199869995
SNP Nexus

SNPshotrs199869995
SNPdbers199869995
MSV3drs199869995
GWAS Ctlgrs199869995
Max Magnitude0
ClinVar
Risk rs199869995(C,T;C,T)
Alt rs199869995(C,T;C,T)
Reference rs199869995(G;G)
Significance Pathogenic
Disease L-ferritin deficiency
Variation info
Gene FTL
CLNDBN L-ferritin deficiency, autosomal recessive
Reversed 0
HGVS NC_000019.9:g.49469598G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000082858.3,