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rs779331797

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs779331797(C;T)
Make rs779331797(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position218661854
GeneBCS1L
is asnp
is mentioned by
dbSNPrs779331797
dbSNP (classic)rs779331797
ClinGenrs779331797
ebirs779331797
HLIrs779331797
Exacrs779331797
Gnomadrs779331797
Varsomers779331797
LitVarrs779331797
Maprs779331797
PheGenIrs779331797
Biobankrs779331797
1000 genomesrs779331797
hgdprs779331797
ensemblrs779331797
geneviewrs779331797
scholarrs779331797
googlers779331797
pharmgkbrs779331797
gwascentralrs779331797
openSNPrs779331797
23andMers779331797
SNPshotrs779331797
SNPdbers779331797
MSV3drs779331797
GWAS Ctlgrs779331797
Max Magnitude0
ClinVar
Risk rs779331797(T;T)
Alt rs779331797(T;T)
Reference Rs779331797(C;C)
Significance Probable-Pathogenic
Disease GRACILE syndrome
Variation info
Gene BCS1L
CLNDBN GRACILE syndrome
Reversed 0
HGVS NC_000002.11:g.219526577C>T
CLNSRC
CLNACC RCV000409533.1,