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rs376517859

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs376517859(A;G)
Make rs376517859(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position21351102
GeneRPGRIP1, SUPT16H
is asnp
is mentioned by
dbSNPrs376517859
ebirs376517859
HLIrs376517859
Exacrs376517859
Varsomers376517859
Maprs376517859
PheGenIrs376517859
hapmaprs376517859
1000 genomesrs376517859
hgdprs376517859
ensemblrs376517859
gopubmedrs376517859
geneviewrs376517859
scholarrs376517859
googlers376517859
pharmgkbrs376517859
gwascentralrs376517859
openSNPrs376517859
23andMers376517859
23andMe allrs376517859
SNP Nexus

SNPshotrs376517859
SNPdbers376517859
MSV3drs376517859
GWAS Ctlgrs376517859
Max Magnitude0
ClinVar
Risk rs376517859(G;G)
Alt rs376517859(G;G)
Reference rs376517859(A;A)
Significance Pathogenic
Disease Cone-rod dystrophy 13
Variation info
Gene SUPT16H RPGRIP1
CLNDBN Cone-rod dystrophy 13
Reversed 0
HGVS NC_000014.8:g.21819261A>G
CLNSRC
CLNACC RCV000176499.1,