Have questions? Visit https://www.reddit.com/r/SNPedia

rs1046974

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1046974(A;A)
Make rs1046974(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position233346901
GeneSAG
is asnp
is mentioned by
dbSNPrs1046974
ebirs1046974
HLIrs1046974
Exacrs1046974
Varsomers1046974
Maprs1046974
PheGenIrs1046974
hapmaprs1046974
1000 genomesrs1046974
hgdprs1046974
ensemblrs1046974
gopubmedrs1046974
geneviewrs1046974
scholarrs1046974
googlers1046974
pharmgkbrs1046974
gwascentralrs1046974
openSNPrs1046974
23andMers1046974
23andMe allrs1046974
SNP Nexus

SNPshotrs1046974
SNPdbers1046974
MSV3drs1046974
GWAS Ctlgrs1046974
GMAF0.3127
Max Magnitude0
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene SAG
allele A
frequency 0.375
sift
HuRef 1103658396384
Disease Association Defects in SAG are the cause of Oguchi disease 1 (MIM:258100); also known as stationary night blindness Oguchi type-1. It is a form of recessively inherited stationary night blindness.



GET Evidence
SAG-V403I
aa_change Val403Ile
aa_change_short V403I
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.304593
summary



ClinVar
Risk rs1046974(A;A)
Alt rs1046974(A;A)
Reference rs1046974(G;G)
Significance Non-pathogenic
Disease not specified
Variation info
Gene SAG
CLNDBN not specified
Reversed 0
HGVS NC_000002.11:g.234255547G>A
CLNSRC
CLNACC RCV000175016.1,