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rs1057518927

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057518927(A;G)
Make rs1057518927(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position124402952
GeneOAT
is asnp
is mentioned by
dbSNPrs1057518927
dbSNP (old)rs1057518927
ClinGenrs1057518927
ebirs1057518927
HLIrs1057518927
Exacrs1057518927
Gnomadrs1057518927
Varsomers1057518927
LitVarrs1057518927
Maprs1057518927
PheGenIrs1057518927
Biobankrs1057518927
1000 genomesrs1057518927
hgdprs1057518927
ensemblrs1057518927
gopubmedrs1057518927
geneviewrs1057518927
scholarrs1057518927
googlers1057518927
pharmgkbrs1057518927
gwascentralrs1057518927
openSNPrs1057518927
23andMers1057518927
23andMe allrs1057518927
SNPshotrs1057518927
SNPdbers1057518927
MSV3drs1057518927
GWAS Ctlgrs1057518927
Max Magnitude0
ClinVar
Risk rs1057518927(G;G)
Alt rs1057518927(G;G)
Reference Rs1057518927(A;A)
Significance Probable-Pathogenic
Disease Abnormality of the choroid Optic atrophy Pain Visual field defect
Variation info
Gene OAT
CLNDBN Abnormality of the choroid Optic atrophy Pain Visual field defect
Reversed 1
HGVS NC_000010.10:g.126091521T>C
CLNSRC
CLNACC RCV000415047.1,