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rs281875236

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs281875236(A;G)
Make rs281875236(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position38343131
GeneGPR179
is asnp
is mentioned by
dbSNPrs281875236
ebirs281875236
HLIrs281875236
Exacrs281875236
Varsomers281875236
Maprs281875236
PheGenIrs281875236
hapmaprs281875236
1000 genomesrs281875236
hgdprs281875236
ensemblrs281875236
gopubmedrs281875236
geneviewrs281875236
scholarrs281875236
googlers281875236
pharmgkbrs281875236
gwascentralrs281875236
openSNPrs281875236
23andMers281875236
23andMe allrs281875236
SNP Nexus

SNPshotrs281875236
SNPdbers281875236
MSV3drs281875236
GWAS Ctlgrs281875236
Max Magnitude0
ClinVar
Risk rs281875236(G;G)
Alt rs281875236(G;G)
Reference rs281875236(A;A)
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.36499014T>C
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000024205.3, RCV000059655.1,


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