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rs587777253

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587777253(A;C)
Make rs587777253(C;C)
ReferenceGRCh38 38.1/142
Chromosome16
Position84042063
GeneSLC38A8
is asnp
is mentioned by
dbSNPrs587777253
ebirs587777253
HLIrs587777253
Exacrs587777253
Varsomers587777253
Maprs587777253
PheGenIrs587777253
hapmaprs587777253
1000 genomesrs587777253
hgdprs587777253
ensemblrs587777253
gopubmedrs587777253
geneviewrs587777253
scholarrs587777253
googlers587777253
pharmgkbrs587777253
gwascentralrs587777253
openSNPrs587777253
23andMers587777253
23andMe allrs587777253
SNP Nexus

SNPshotrs587777253
SNPdbers587777253
MSV3drs587777253
GWAS Ctlgrs587777253
Max Magnitude0
ClinVar
Risk rs587777253(C;C)
Alt rs587777253(C;C)
Reference rs587777253(A;A)
Significance Pathogenic
Disease Foveal hypoplasia 2
Variation info
Gene SLC38A8
CLNDBN Foveal hypoplasia 2
Reversed 0
HGVS NC_000016.9:g.84075668A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000111467.5,