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rs587777255

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777255(-;-)
Make rs587777255(-;C)
ReferenceGRCh38 38.1/142
Chromosome16
Position84016679
GeneSLC38A8
is asnp
is mentioned by
dbSNPrs587777255
ebirs587777255
HLIrs587777255
Exacrs587777255
Varsomers587777255
Maprs587777255
PheGenIrs587777255
hapmaprs587777255
1000 genomesrs587777255
hgdprs587777255
ensemblrs587777255
gopubmedrs587777255
geneviewrs587777255
scholarrs587777255
googlers587777255
pharmgkbrs587777255
gwascentralrs587777255
openSNPrs587777255
23andMers587777255
23andMe allrs587777255
SNP Nexus

SNPshotrs587777255
SNPdbers587777255
MSV3drs587777255
GWAS Ctlgrs587777255
Max Magnitude0
ClinVar
Risk rs587777255(;)
Alt rs587777255(;)
Reference rs587777255(C;C)
Significance Pathogenic
Disease FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING AND ANTERIOR SEGMENT DYSGENESIS
Variation info
Gene SLC38A8
CLNDBN FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING AND ANTERIOR SEGMENT DYSGENESIS
Reversed 0
HGVS NC_000016.9:g.84050284delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000111469.4,