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rs1057519340

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057519340(C;C)
Make rs1057519340(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position16904267
GeneCPAMD8
is asnp
is mentioned by
dbSNPrs1057519340
dbSNP (old)rs1057519340
ClinGenrs1057519340
ebirs1057519340
HLIrs1057519340
Exacrs1057519340
Gnomadrs1057519340
Varsomers1057519340
Maprs1057519340
PheGenIrs1057519340
Biobankrs1057519340
1000 genomesrs1057519340
hgdprs1057519340
ensemblrs1057519340
gopubmedrs1057519340
geneviewrs1057519340
scholarrs1057519340
googlers1057519340
pharmgkbrs1057519340
gwascentralrs1057519340
openSNPrs1057519340
23andMers1057519340
23andMe allrs1057519340
SNPshotrs1057519340
SNPdbers1057519340
MSV3drs1057519340
GWAS Ctlgrs1057519340
Max Magnitude0
ClinVar
Risk rs1057519340(C;C)
Alt rs1057519340(C;C)
Reference Rs1057519340(T;T)
Significance Pathogenic
Disease Anterior segment dysgenesis 8
Variation info
Gene CPAMD8
CLNDBN Anterior segment dysgenesis 8
Reversed 1
HGVS NC_000019.9:g.17015077A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000416368.1,