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rs386833857

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833857(A;A)
Make rs386833857(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position218661516
GeneBCS1L, ZNF142
is asnp
is mentioned by
dbSNPrs386833857
ebirs386833857
HLIrs386833857
Exacrs386833857
Varsomers386833857
Maprs386833857
PheGenIrs386833857
hapmaprs386833857
1000 genomesrs386833857
hgdprs386833857
ensemblrs386833857
gopubmedrs386833857
geneviewrs386833857
scholarrs386833857
googlers386833857
pharmgkbrs386833857
gwascentralrs386833857
openSNPrs386833857
23andMers386833857
23andMe allrs386833857
SNP Nexus

SNPshotrs386833857
SNPdbers386833857
MSV3drs386833857
GWAS Ctlgrs386833857
Max Magnitude0
ClinVar
Risk rs386833857(A;A)
Alt rs386833857(A;A)
Reference rs386833857(G;G)
Significance Probable-Pathogenic
Disease GRACILE syndrome
Variation info
Gene ZNF142 BCS1L
CLNDBN GRACILE syndrome
Reversed 0
HGVS NC_000002.11:g.219526239G>A
CLNSRC ClinVar
CLNACC RCV000049826.1,


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