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rs587777471

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777471(A;A)
Make rs587777471(A;G)
ReferenceGRCh38 38.1/142
Chromosome14
Position75863694
GeneTTLL5
is asnp
is mentioned by
dbSNPrs587777471
ebirs587777471
HLIrs587777471
Exacrs587777471
Varsomers587777471
Maprs587777471
PheGenIrs587777471
hapmaprs587777471
1000 genomesrs587777471
hgdprs587777471
ensemblrs587777471
gopubmedrs587777471
geneviewrs587777471
scholarrs587777471
googlers587777471
pharmgkbrs587777471
gwascentralrs587777471
openSNPrs587777471
23andMers587777471
23andMe allrs587777471
SNP Nexus

SNPshotrs587777471
SNPdbers587777471
MSV3drs587777471
GWAS Ctlgrs587777471
Max Magnitude0
ClinVar
Risk rs587777471(A;A)
Alt rs587777471(A;A)
Reference rs587777471(G;G)
Significance Pathogenic
Disease Cone-rod dystrophy 19
Variation info
Gene TTLL5
CLNDBN Cone-rod dystrophy 19
Reversed 0
HGVS NC_000014.8:g.76330037G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000128416.3,