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rs386833858

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833858(C;C)
Make rs386833858(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position218662973
GeneBCS1L
is asnp
is mentioned by
dbSNPrs386833858
ebirs386833858
HLIrs386833858
Exacrs386833858
Varsomers386833858
Maprs386833858
PheGenIrs386833858
hapmaprs386833858
1000 genomesrs386833858
hgdprs386833858
ensemblrs386833858
gopubmedrs386833858
geneviewrs386833858
scholarrs386833858
googlers386833858
pharmgkbrs386833858
gwascentralrs386833858
openSNPrs386833858
23andMers386833858
23andMe allrs386833858
SNP Nexus

SNPshotrs386833858
SNPdbers386833858
MSV3drs386833858
GWAS Ctlgrs386833858
Max Magnitude0
ClinVar
Risk rs386833858(C;C)
Alt rs386833858(C;C)
Reference rs386833858(T;T)
Significance Probable-Pathogenic
Disease GRACILE syndrome
Variation info
Gene BCS1L
CLNDBN GRACILE syndrome
Reversed 0
HGVS NC_000002.11:g.219527696T>C
CLNSRC ClinVar
CLNACC RCV000049827.1,


[PMID 12215968OA-icon.png] GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L.