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rs386833855

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833855(A;A)
Make rs386833855(A;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position218660400
GeneBCS1L, ZNF142
is asnp
is mentioned by
dbSNPrs386833855
ebirs386833855
HLIrs386833855
Exacrs386833855
Varsomers386833855
Maprs386833855
PheGenIrs386833855
hapmaprs386833855
1000 genomesrs386833855
hgdprs386833855
ensemblrs386833855
gopubmedrs386833855
geneviewrs386833855
scholarrs386833855
googlers386833855
pharmgkbrs386833855
gwascentralrs386833855
openSNPrs386833855
23andMers386833855
23andMe allrs386833855
SNP Nexus

SNPshotrs386833855
SNPdbers386833855
MSV3drs386833855
GWAS Ctlgrs386833855
Max Magnitude0
ClinVar
Risk rs386833855(A;A)
Alt rs386833855(A;A)
Reference rs386833855(T;T)
Significance Probable-Pathogenic
Disease GRACILE syndrome
Variation info
Gene ZNF142 BCS1L
CLNDBN GRACILE syndrome
Reversed 0
HGVS NC_000002.11:g.219525123T>A
CLNSRC ClinVar
CLNACC RCV000049824.1,


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