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rs751163782

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs751163782(A;C)
Make rs751163782(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome4
Position13369888
GeneRAB28
is asnp
is mentioned by
dbSNPrs751163782
ebirs751163782
HLIrs751163782
Exacrs751163782
Varsomers751163782
Maprs751163782
PheGenIrs751163782
hapmaprs751163782
1000 genomesrs751163782
hgdprs751163782
ensemblrs751163782
gopubmedrs751163782
geneviewrs751163782
scholarrs751163782
googlers751163782
pharmgkbrs751163782
gwascentralrs751163782
openSNPrs751163782
23andMers751163782
23andMe allrs751163782
SNP Nexus

SNPshotrs751163782
SNPdbers751163782
MSV3drs751163782
GWAS Ctlgrs751163782
Max Magnitude0
ClinVar
Risk rs751163782(C,G;C,G)
Alt rs751163782(C,G;C,G)
Reference rs751163782(A;A)
Significance Pathogenic
Disease Cone-rod dystrophy 18
Variation info
Gene RAB28
CLNDBN Cone-rod dystrophy 18
Reversed 0
HGVS NC_000004.11:g.13371512A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000211107.2,