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rs587777256

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777256(C;T)
Make rs587777256(T;T)
ReferenceGRCh38 38.1/142
Chromosome16
Position84009858
GeneSLC38A8
is asnp
is mentioned by
dbSNPrs587777256
ebirs587777256
HLIrs587777256
Exacrs587777256
Varsomers587777256
Maprs587777256
PheGenIrs587777256
hapmaprs587777256
1000 genomesrs587777256
hgdprs587777256
ensemblrs587777256
gopubmedrs587777256
geneviewrs587777256
scholarrs587777256
googlers587777256
pharmgkbrs587777256
gwascentralrs587777256
openSNPrs587777256
23andMers587777256
23andMe allrs587777256
SNP Nexus

SNPshotrs587777256
SNPdbers587777256
MSV3drs587777256
GWAS Ctlgrs587777256
Max Magnitude0
ClinVar
Risk rs587777256(C,T;C,T)
Alt rs587777256(C,T;C,T)
Reference rs587777256(G;G)
Significance Pathogenic
Disease FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING
Variation info
Gene SLC38A8
CLNDBN FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING
Reversed 1
HGVS NC_000016.9:g.84043463C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000111470.4,