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rs201454788

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs201454788(C;T)
Make rs201454788(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position218662661
GeneBCS1L
is asnp
is mentioned by
dbSNPrs201454788
dbSNP (classic)rs201454788
ClinGenrs201454788
ebirs201454788
HLIrs201454788
Exacrs201454788
Gnomadrs201454788
Varsomers201454788
LitVarrs201454788
Maprs201454788
PheGenIrs201454788
Biobankrs201454788
1000 genomesrs201454788
hgdprs201454788
ensemblrs201454788
geneviewrs201454788
scholarrs201454788
googlers201454788
pharmgkbrs201454788
gwascentralrs201454788
openSNPrs201454788
23andMers201454788
SNPshotrs201454788
SNPdbers201454788
MSV3drs201454788
GWAS Ctlgrs201454788
Max Magnitude0
ClinVar
Risk rs201454788(T;T)
Alt rs201454788(T;T)
Reference Rs201454788(C;C)
Significance Pathogenic
Disease not provided BCS1L-Related Disorders
Variation info
Gene BCS1L
CLNDBN not provided BCS1L-Related Disorders
Reversed 0
HGVS NC_000002.11:g.219527384C>T
CLNSRC
CLNACC RCV000195977.2, RCV000368540.1,