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rs1057519083

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057519083(C;C)
Make rs1057519083(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position126304283
GeneDCPS
is asnp
is mentioned by
dbSNPrs1057519083
dbSNP (old)rs1057519083
ClinGenrs1057519083
ebirs1057519083
HLIrs1057519083
Exacrs1057519083
Gnomadrs1057519083
Varsomers1057519083
Maprs1057519083
PheGenIrs1057519083
Biobankrs1057519083
1000 genomesrs1057519083
hgdprs1057519083
ensemblrs1057519083
gopubmedrs1057519083
geneviewrs1057519083
scholarrs1057519083
googlers1057519083
pharmgkbrs1057519083
gwascentralrs1057519083
openSNPrs1057519083
23andMers1057519083
23andMe allrs1057519083
SNPshotrs1057519083
SNPdbers1057519083
MSV3drs1057519083
GWAS Ctlgrs1057519083
Max Magnitude0
ClinVar
Risk rs1057519083(C;C)
Alt rs1057519083(C;C)
Reference Rs1057519083(T;T)
Significance Pathogenic
Disease AL-RAQAD SYNDROME
Variation info
Gene DCPS
CLNDBN AL-RAQAD SYNDROME
Reversed 0
HGVS NC_000011.9:g.126174178T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000412501.1,