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rs587777469

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGAG;AGAG) 0 common in clinvar
Make rs587777469(-;-)
Make rs587777469(-;AGAG)
ReferenceGRCh38 38.1/142
Chromosome14
Position75764650
GeneTTLL5
is asnp
is mentioned by
dbSNPrs587777469
ebirs587777469
HLIrs587777469
Exacrs587777469
Varsomers587777469
Maprs587777469
PheGenIrs587777469
hapmaprs587777469
1000 genomesrs587777469
hgdprs587777469
ensemblrs587777469
gopubmedrs587777469
geneviewrs587777469
scholarrs587777469
googlers587777469
pharmgkbrs587777469
gwascentralrs587777469
openSNPrs587777469
23andMers587777469
23andMe allrs587777469
SNP Nexus

SNPshotrs587777469
SNPdbers587777469
MSV3drs587777469
GWAS Ctlgrs587777469
Max Magnitude0
ClinVar
Risk rs587777469(;)
Alt rs587777469(;)
Reference rs587777469(AGAG;AGAG)
Significance Pathogenic
Disease Cone-rod dystrophy 19
Variation info
Gene TTLL5
CLNDBN Cone-rod dystrophy 19
Reversed 0
HGVS NC_000014.8:g.76230993_76230996delAGAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000128414.2,