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rs114575851

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs114575851(C;C)
Make rs114575851(C;G)
ReferenceGRCh38.p7 38.3/149
Chromosome12
Position14977984
GeneLOC105369670, PDE6H
is asnp
is mentioned by
dbSNPrs114575851
dbSNP (classic)rs114575851
ClinGenrs114575851
ebirs114575851
HLIrs114575851
Exacrs114575851
Gnomadrs114575851
Varsomers114575851
LitVarrs114575851
Maprs114575851
PheGenIrs114575851
Biobankrs114575851
1000 genomesrs114575851
hgdprs114575851
ensemblrs114575851
geneviewrs114575851
scholarrs114575851
googlers114575851
pharmgkbrs114575851
gwascentralrs114575851
openSNPrs114575851
23andMers114575851
23andMe allrs114575851
SNPshotrs114575851
SNPdbers114575851
MSV3drs114575851
GWAS Ctlgrs114575851
Max Magnitude0

[PMID 27569544OA-icon.png] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.

ClinVar
Risk rs114575851(C;C)
Alt rs114575851(C;C)
Reference Rs114575851(G;G)
Significance Probable-non-pathogenic
Disease Cone dystrophy 3
Variation info
Gene PDE6H
CLNDBN Cone dystrophy 3
Reversed 0
HGVS NC_000012.11:g.15130918G>C
CLNSRC Illumina
CLNACC RCV000301976.1,