Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs1057517676

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517676(C;C)
Make rs1057517676(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position74674964
GeneEDC3
is asnp
is mentioned by
dbSNPrs1057517676
dbSNP (old)rs1057517676
ClinGenrs1057517676
ebirs1057517676
HLIrs1057517676
Exacrs1057517676
Gnomadrs1057517676
Varsomers1057517676
Maprs1057517676
PheGenIrs1057517676
Biobankrs1057517676
1000 genomesrs1057517676
hgdprs1057517676
ensemblrs1057517676
gopubmedrs1057517676
geneviewrs1057517676
scholarrs1057517676
googlers1057517676
pharmgkbrs1057517676
gwascentralrs1057517676
openSNPrs1057517676
23andMers1057517676
23andMe allrs1057517676
SNPshotrs1057517676
SNPdbers1057517676
MSV3drs1057517676
GWAS Ctlgrs1057517676
Max Magnitude0
ClinVar
Risk rs1057517676(C;C)
Alt rs1057517676(C;C)
Reference Rs1057517676(T;T)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene EDC3
CLNDBN Mental retardation, autosomal recessive 50
Reversed 1
HGVS NC_000015.9:g.74967305A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000412560.1,