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rs1057516255

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516255(-;A)
Make rs1057516255(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position218661905
GeneBCS1L
is asnp
is mentioned by
dbSNPrs1057516255
dbSNP (old)rs1057516255
ClinGenrs1057516255
ebirs1057516255
HLIrs1057516255
Exacrs1057516255
Gnomadrs1057516255
Varsomers1057516255
Maprs1057516255
PheGenIrs1057516255
Biobankrs1057516255
1000 genomesrs1057516255
hgdprs1057516255
ensemblrs1057516255
gopubmedrs1057516255
geneviewrs1057516255
scholarrs1057516255
googlers1057516255
pharmgkbrs1057516255
gwascentralrs1057516255
openSNPrs1057516255
23andMers1057516255
23andMe allrs1057516255
SNPshotrs1057516255
SNPdbers1057516255
MSV3drs1057516255
GWAS Ctlgrs1057516255
Max Magnitude0
ClinVar
Risk rs1057516255(A;A)
Alt rs1057516255(A;A)
Reference Rs1057516255(-;-)
Significance Probable-Pathogenic
Disease GRACILE syndrome
Variation info
Gene BCS1L
CLNDBN GRACILE syndrome
Reversed 0
HGVS NC_000002.11:g.219526628dupA
CLNSRC
CLNACC RCV000410319.1,