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rs1057516193

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516193(C;G)
Make rs1057516193(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position84017290
GeneSLC38A8
is asnp
is mentioned by
dbSNPrs1057516193
dbSNP (old)rs1057516193
ClinGenrs1057516193
ebirs1057516193
HLIrs1057516193
Exacrs1057516193
Gnomadrs1057516193
Varsomers1057516193
Maprs1057516193
PheGenIrs1057516193
Biobankrs1057516193
1000 genomesrs1057516193
hgdprs1057516193
ensemblrs1057516193
gopubmedrs1057516193
geneviewrs1057516193
scholarrs1057516193
googlers1057516193
pharmgkbrs1057516193
gwascentralrs1057516193
openSNPrs1057516193
23andMers1057516193
23andMe allrs1057516193
SNPshotrs1057516193
SNPdbers1057516193
MSV3drs1057516193
GWAS Ctlgrs1057516193
Max Magnitude0
ClinVar
Risk rs1057516193(G;G)
Alt rs1057516193(G;G)
Reference Rs1057516193(C;C)
Significance Probable-Pathogenic
Disease Foveal hypoplasia 2
Variation info
Gene SLC38A8
CLNDBN Foveal hypoplasia 2
Reversed 1
HGVS NC_000016.9:g.84050895G>C
CLNSRC
CLNACC RCV000408871.1,