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rs1057516802

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516802(A;A)
Make rs1057516802(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position218661954
GeneBCS1L
is asnp
is mentioned by
dbSNPrs1057516802
dbSNP (old)rs1057516802
ClinGenrs1057516802
ebirs1057516802
HLIrs1057516802
Exacrs1057516802
Gnomadrs1057516802
Varsomers1057516802
Maprs1057516802
PheGenIrs1057516802
Biobankrs1057516802
1000 genomesrs1057516802
hgdprs1057516802
ensemblrs1057516802
gopubmedrs1057516802
geneviewrs1057516802
scholarrs1057516802
googlers1057516802
pharmgkbrs1057516802
gwascentralrs1057516802
openSNPrs1057516802
23andMers1057516802
23andMe allrs1057516802
SNPshotrs1057516802
SNPdbers1057516802
MSV3drs1057516802
GWAS Ctlgrs1057516802
Max Magnitude0
ClinVar
Risk rs1057516802(A;A)
Alt rs1057516802(A;A)
Reference Rs1057516802(G;G)
Significance Probable-Pathogenic
Disease GRACILE syndrome
Variation info
Gene BCS1L
CLNDBN GRACILE syndrome
Reversed 0
HGVS NC_000002.11:g.219526677G>A
CLNSRC
CLNACC RCV000410918.1,