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rs1057517412

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517412(-;-)
Make rs1057517412(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position218661503
GeneBCS1L, ZNF142
is asnp
is mentioned by
dbSNPrs1057517412
dbSNP (old)rs1057517412
ClinGenrs1057517412
ebirs1057517412
HLIrs1057517412
Exacrs1057517412
Gnomadrs1057517412
Varsomers1057517412
Maprs1057517412
PheGenIrs1057517412
Biobankrs1057517412
1000 genomesrs1057517412
hgdprs1057517412
ensemblrs1057517412
gopubmedrs1057517412
geneviewrs1057517412
scholarrs1057517412
googlers1057517412
pharmgkbrs1057517412
gwascentralrs1057517412
openSNPrs1057517412
23andMers1057517412
23andMe allrs1057517412
SNPshotrs1057517412
SNPdbers1057517412
MSV3drs1057517412
GWAS Ctlgrs1057517412
Max Magnitude0
ClinVar
Risk rs1057517412(-;-)
Alt rs1057517412(-;-)
Reference Rs1057517412(C;C)
Significance Probable-Pathogenic
Disease GRACILE syndrome
Variation info
Gene BCS1L ZNF142
CLNDBN GRACILE syndrome
Reversed 0
HGVS NC_000002.11:g.219526226delC
CLNSRC
CLNACC RCV000409243.1,