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rs386833856

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833856(G;T)
Make rs386833856(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position218661308
GeneBCS1L, ZNF142
is asnp
is mentioned by
dbSNPrs386833856
ebirs386833856
HLIrs386833856
Exacrs386833856
Varsomers386833856
Maprs386833856
PheGenIrs386833856
hapmaprs386833856
1000 genomesrs386833856
hgdprs386833856
ensemblrs386833856
gopubmedrs386833856
geneviewrs386833856
scholarrs386833856
googlers386833856
pharmgkbrs386833856
gwascentralrs386833856
openSNPrs386833856
23andMers386833856
23andMe allrs386833856
SNP Nexus

SNPshotrs386833856
SNPdbers386833856
MSV3drs386833856
GWAS Ctlgrs386833856
Max Magnitude0
ClinVar
Risk rs386833856(T;T)
Alt rs386833856(T;T)
Reference rs386833856(G;G)
Significance Probable-Pathogenic
Disease GRACILE syndrome
Variation info
Gene BCS1L ZNF142
CLNDBN GRACILE syndrome
Reversed 0
HGVS NC_000002.11:g.219526031G>T
CLNSRC ClinVar
CLNACC RCV000049825.2,


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