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rs199882533

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199882533(A;A)
Make rs199882533(A;G)
ReferenceGRCh38 38.1/142
Chromosome14
Position75764691
GeneTTLL5
is asnp
is mentioned by
dbSNPrs199882533
ebirs199882533
HLIrs199882533
Exacrs199882533
Varsomers199882533
Maprs199882533
PheGenIrs199882533
hapmaprs199882533
1000 genomesrs199882533
hgdprs199882533
ensemblrs199882533
gopubmedrs199882533
geneviewrs199882533
scholarrs199882533
googlers199882533
pharmgkbrs199882533
gwascentralrs199882533
openSNPrs199882533
23andMers199882533
23andMe allrs199882533
SNP Nexus

SNPshotrs199882533
SNPdbers199882533
MSV3drs199882533
GWAS Ctlgrs199882533
Max Magnitude0
ClinVar
Risk rs199882533(A,T;A,T)
Alt rs199882533(A,T;A,T)
Reference rs199882533(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.76231034G>A; NC_000014.8:g.76231034G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000128418.2, RCV000128417.2,