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rs587777470

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587777470(-;-)
Make rs587777470(-;T)
ReferenceGRCh38 38.1/142
Chromosome14
Position75690221
GeneTTLL5
is asnp
is mentioned by
dbSNPrs587777470
ebirs587777470
HLIrs587777470
Exacrs587777470
Varsomers587777470
Maprs587777470
PheGenIrs587777470
hapmaprs587777470
1000 genomesrs587777470
hgdprs587777470
ensemblrs587777470
gopubmedrs587777470
geneviewrs587777470
scholarrs587777470
googlers587777470
pharmgkbrs587777470
gwascentralrs587777470
openSNPrs587777470
23andMers587777470
23andMe allrs587777470
SNP Nexus

SNPshotrs587777470
SNPdbers587777470
MSV3drs587777470
GWAS Ctlgrs587777470
Max Magnitude0
ClinVar
Risk rs587777470(;)
Alt rs587777470(;)
Reference rs587777470(T;T)
Significance Pathogenic
Disease Cone-rod dystrophy 19
Variation info
Gene TTLL5
CLNDBN Cone-rod dystrophy 19
Reversed 0
HGVS NC_000014.8:g.76156564delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000128415.2,