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rs281875234

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281875234(C;T)
Make rs281875234(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position38334016
GeneGPR179
is asnp
is mentioned by
dbSNPrs281875234
ebirs281875234
HLIrs281875234
Exacrs281875234
Varsomers281875234
Maprs281875234
PheGenIrs281875234
hapmaprs281875234
1000 genomesrs281875234
hgdprs281875234
ensemblrs281875234
gopubmedrs281875234
geneviewrs281875234
scholarrs281875234
googlers281875234
pharmgkbrs281875234
gwascentralrs281875234
openSNPrs281875234
23andMers281875234
23andMe allrs281875234
SNP Nexus

SNPshotrs281875234
SNPdbers281875234
MSV3drs281875234
GWAS Ctlgrs281875234
Max Magnitude0
ClinVar
Risk rs281875234(T;T)
Alt rs281875234(T;T)
Reference Rs281875234(C;C)
Significance Pathogenic
Disease Congenital stationary night blindness not provided
Variation info
Gene GPR179
CLNDBN Congenital stationary night blindness, type 1E not provided
Reversed 1
HGVS NC_000017.10:g.36489899G>A
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000024199.3, RCV000059653.1,


[PMID 22325361OA-icon.png] Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.