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rs587777257

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CAG;CAG) 0 common in clinvar
(CTGA;CTGA) 0 common in clinvar
Make rs587777257(-;-)
Make rs587777257(-;CAG)
ReferenceGRCh38 38.1/142
Chromosome16
Position84017246
GeneSLC38A8
is asnp
is mentioned by
dbSNPrs587777257
ebirs587777257
HLIrs587777257
Exacrs587777257
Varsomers587777257
Maprs587777257
PheGenIrs587777257
hapmaprs587777257
1000 genomesrs587777257
hgdprs587777257
ensemblrs587777257
gopubmedrs587777257
geneviewrs587777257
scholarrs587777257
googlers587777257
pharmgkbrs587777257
gwascentralrs587777257
openSNPrs587777257
23andMers587777257
23andMe allrs587777257
SNP Nexus

SNPshotrs587777257
SNPdbers587777257
MSV3drs587777257
GWAS Ctlgrs587777257
Max Magnitude0
ClinVar
Risk rs587777257(CAGA,A;CAGA,A)
Alt rs587777257(CAGA,A;CAGA,A)
Reference rs587777257(CTGA;CTGA)
Significance Pathogenic
Disease Foveal hypoplasia 2 and optic nerve misrouting with or without anterior segment dysgenesis
Variation info
Gene SLC38A8
CLNDBN Foveal hypoplasia 2 and optic nerve misrouting with or without anterior segment dysgenesis
Reversed 1
HGVS NC_000016.9:g.84050851_84050853delCAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000111473.5,