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rs2276717

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs2276717(A;A)
Make rs2276717(A;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position170483441
GeneSLC7A14
is asnp
is mentioned by
dbSNPrs2276717
ebirs2276717
HLIrs2276717
Exacrs2276717
Varsomers2276717
Maprs2276717
PheGenIrs2276717
hapmaprs2276717
1000 genomesrs2276717
hgdprs2276717
ensemblrs2276717
gopubmedrs2276717
geneviewrs2276717
scholarrs2276717
googlers2276717
pharmgkbrs2276717
gwascentralrs2276717
openSNPrs2276717
23andMers2276717
23andMe allrs2276717
SNP Nexus

SNPshotrs2276717
SNPdbers2276717
MSV3drs2276717
GWAS Ctlgrs2276717
Max Magnitude0
? (A;A) (A;G) (G;G) 28
ClinVar
Risk rs2276717(A;A)
Alt rs2276717(A;A)
Reference rs2276717(G;G)
Significance Pathogenic
Disease Retinitis pigmentosa 68
Variation info
Gene SLC7A14
CLNDBN Retinitis pigmentosa 68
Reversed 1
HGVS NC_000003.11:g.170201230C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000114374.2,