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rs1057516518

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516518(-;C)
Make rs1057516518(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position218662966
GeneBCS1L
is asnp
is mentioned by
dbSNPrs1057516518
dbSNP (old)rs1057516518
ClinGenrs1057516518
ebirs1057516518
HLIrs1057516518
Exacrs1057516518
Gnomadrs1057516518
Varsomers1057516518
Maprs1057516518
PheGenIrs1057516518
Biobankrs1057516518
1000 genomesrs1057516518
hgdprs1057516518
ensemblrs1057516518
gopubmedrs1057516518
geneviewrs1057516518
scholarrs1057516518
googlers1057516518
pharmgkbrs1057516518
gwascentralrs1057516518
openSNPrs1057516518
23andMers1057516518
23andMe allrs1057516518
SNPshotrs1057516518
SNPdbers1057516518
MSV3drs1057516518
GWAS Ctlgrs1057516518
Max Magnitude0
ClinVar
Risk rs1057516518(C;C)
Alt rs1057516518(C;C)
Reference Rs1057516518(-;-)
Significance Probable-Pathogenic
Disease GRACILE syndrome
Variation info
Gene BCS1L
CLNDBN GRACILE syndrome
Reversed 0
HGVS NC_000002.11:g.219527689dupC
CLNSRC
CLNACC RCV000412303.1,