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rs587777254

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs587777254(A;T)
ReferenceGRCh38 38.1/142
Chromosome16
Position84022873
GeneSLC38A8
is asnp
is mentioned by
dbSNPrs587777254
ebirs587777254
HLIrs587777254
Exacrs587777254
Varsomers587777254
Maprs587777254
PheGenIrs587777254
hapmaprs587777254
1000 genomesrs587777254
hgdprs587777254
ensemblrs587777254
gopubmedrs587777254
geneviewrs587777254
scholarrs587777254
googlers587777254
pharmgkbrs587777254
gwascentralrs587777254
openSNPrs587777254
23andMers587777254
23andMe allrs587777254
SNP Nexus

SNPshotrs587777254
SNPdbers587777254
MSV3drs587777254
GWAS Ctlgrs587777254
Max Magnitude0
ClinVar
Risk rs587777254(A;A)
Alt rs587777254(A;A)
Reference rs587777254(T;T)
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 1
HGVS NC_000016.9:g.84056478A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000111468.4,