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rs1057516954

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516954(C;C)
Make rs1057516954(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position218661547
GeneBCS1L, ZNF142
is asnp
is mentioned by
dbSNPrs1057516954
dbSNP (old)rs1057516954
ClinGenrs1057516954
ebirs1057516954
HLIrs1057516954
Exacrs1057516954
Gnomadrs1057516954
Varsomers1057516954
Maprs1057516954
PheGenIrs1057516954
Biobankrs1057516954
1000 genomesrs1057516954
hgdprs1057516954
ensemblrs1057516954
gopubmedrs1057516954
geneviewrs1057516954
scholarrs1057516954
googlers1057516954
pharmgkbrs1057516954
gwascentralrs1057516954
openSNPrs1057516954
23andMers1057516954
23andMe allrs1057516954
SNPshotrs1057516954
SNPdbers1057516954
MSV3drs1057516954
GWAS Ctlgrs1057516954
Max Magnitude0
ClinVar
Risk rs1057516954(C;C)
Alt rs1057516954(C;C)
Reference Rs1057516954(T;T)
Significance Probable-Pathogenic
Disease GRACILE syndrome
Variation info
Gene ZNF142 BCS1L
CLNDBN GRACILE syndrome
Reversed 0
HGVS NC_000002.11:g.219526270T>C
CLNSRC
CLNACC RCV000409791.1,