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

rs121918532

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918532(G;T)
Make rs121918532(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position57897913
GeneCNGB1
is asnp
is mentioned by
dbSNPrs121918532
dbSNP (classic)rs121918532
ClinGenrs121918532
ebirs121918532
HLIrs121918532
Exacrs121918532
Gnomadrs121918532
Varsomers121918532
LitVarrs121918532
Maprs121918532
PheGenIrs121918532
Biobankrs121918532
1000 genomesrs121918532
hgdprs121918532
ensemblrs121918532
geneviewrs121918532
scholarrs121918532
googlers121918532
pharmgkbrs121918532
gwascentralrs121918532
openSNPrs121918532
23andMers121918532
SNPshotrs121918532
SNPdbers121918532
MSV3drs121918532
GWAS Ctlgrs121918532
Max Magnitude0
OMIM600724
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918532(A;A) rs121918532(T;T)
Alt rs121918532(A;A) rs121918532(T;T)
Reference Rs121918532(G;G)
Significance Pathogenic
Disease Retinitis pigmentosa 45 not specified
Variation info
Gene CNGB1
CLNDBN Retinitis pigmentosa 45 not specified
Reversed 1
HGVS NC_000016.9:g.57931817C>A; NC_000016.9:g.57931817C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000009448.3, RCV000079634.4,