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rs1057516786

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(GA;GA) 0 common in clinvar
Make rs1057516786(-;-)
Make rs1057516786(-;AG)
Make rs1057516786(AG;AG)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position218663370
GeneBCS1L, RNF25
is asnp
is mentioned by
dbSNPrs1057516786
dbSNP (old)rs1057516786
ClinGenrs1057516786
ebirs1057516786
HLIrs1057516786
Exacrs1057516786
Gnomadrs1057516786
Varsomers1057516786
Maprs1057516786
PheGenIrs1057516786
Biobankrs1057516786
1000 genomesrs1057516786
hgdprs1057516786
ensemblrs1057516786
gopubmedrs1057516786
geneviewrs1057516786
scholarrs1057516786
googlers1057516786
pharmgkbrs1057516786
gwascentralrs1057516786
openSNPrs1057516786
23andMers1057516786
23andMe allrs1057516786
SNPshotrs1057516786
SNPdbers1057516786
MSV3drs1057516786
GWAS Ctlgrs1057516786
Max Magnitude0
ClinVar
Risk rs1057516786(-;-)
Alt rs1057516786(-;-)
Reference Rs1057516786(GA;GA)
Significance Probable-Pathogenic
Disease GRACILE syndrome
Variation info
Gene BCS1L RNF25
CLNDBN GRACILE syndrome
Reversed 0
HGVS NC_000002.11:g.219528093_219528094delAG
CLNSRC
CLNACC RCV000411872.1,