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

rs786200944

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786200944(C;T)
Make rs786200944(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position13376553
GeneRAB28
is asnp
is mentioned by
dbSNPrs786200944
ebirs786200944
HLIrs786200944
Exacrs786200944
Varsomers786200944
Maprs786200944
PheGenIrs786200944
hapmaprs786200944
1000 genomesrs786200944
hgdprs786200944
ensemblrs786200944
gopubmedrs786200944
geneviewrs786200944
scholarrs786200944
googlers786200944
pharmgkbrs786200944
gwascentralrs786200944
openSNPrs786200944
23andMers786200944
23andMe allrs786200944
SNP Nexus

SNPshotrs786200944
SNPdbers786200944
MSV3drs786200944
GWAS Ctlgrs786200944
Max Magnitude0
ClinVar
Risk rs786200944(T;T)
Alt rs786200944(T;T)
Reference rs786200944(C;C)
Significance Pathogenic
Disease Cone-rod dystrophy 18
Variation info
Gene RAB28
CLNDBN Cone-rod dystrophy 18
Reversed 1
HGVS NC_000004.11:g.13378177G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000054527.3,