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rs149592537

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs149592537(A;A)
Make rs149592537(A;G)
ReferenceGRCh38 38.1/142
Chromosome16
Position84031901
GeneSLC38A8
is asnp
is mentioned by
dbSNPrs149592537
ebirs149592537
HLIrs149592537
Exacrs149592537
Varsomers149592537
Maprs149592537
PheGenIrs149592537
hapmaprs149592537
1000 genomesrs149592537
hgdprs149592537
ensemblrs149592537
gopubmedrs149592537
geneviewrs149592537
scholarrs149592537
googlers149592537
pharmgkbrs149592537
gwascentralrs149592537
openSNPrs149592537
23andMers149592537
23andMe allrs149592537
SNP Nexus

SNPshotrs149592537
SNPdbers149592537
MSV3drs149592537
GWAS Ctlgrs149592537
Max Magnitude0
ClinVar
Risk rs149592537(A;A)
Alt rs149592537(A;A)
Reference rs149592537(G;G)
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 0
HGVS NC_000016.9:g.84065506G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000111472.3,