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rs1057516346

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516346(G;T)
Make rs1057516346(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position218662680
GeneBCS1L
is asnp
is mentioned by
dbSNPrs1057516346
dbSNP (classic)rs1057516346
ClinGenrs1057516346
ebirs1057516346
HLIrs1057516346
Exacrs1057516346
Gnomadrs1057516346
Varsomers1057516346
LitVarrs1057516346
Maprs1057516346
PheGenIrs1057516346
Biobankrs1057516346
1000 genomesrs1057516346
hgdprs1057516346
ensemblrs1057516346
geneviewrs1057516346
scholarrs1057516346
googlers1057516346
pharmgkbrs1057516346
gwascentralrs1057516346
openSNPrs1057516346
23andMers1057516346
23andMe allrs1057516346
SNPshotrs1057516346
SNPdbers1057516346
MSV3drs1057516346
GWAS Ctlgrs1057516346
Max Magnitude0
ClinVar
Risk rs1057516346(T;T)
Alt rs1057516346(T;T)
Reference Rs1057516346(G;G)
Significance Probable-Pathogenic
Disease GRACILE syndrome
Variation info
Gene BCS1L
CLNDBN GRACILE syndrome
Reversed 0
HGVS NC_000002.11:g.219527403G>T
CLNSRC
CLNACC RCV000411192.1,