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rs869312175

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869312175(-;-)
Make rs869312175(-;C)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position47839715
GeneCRX
is asnp
is mentioned by
dbSNPrs869312175
ebirs869312175
HLIrs869312175
Exacrs869312175
Varsomers869312175
Maprs869312175
PheGenIrs869312175
hapmaprs869312175
1000 genomesrs869312175
hgdprs869312175
ensemblrs869312175
gopubmedrs869312175
geneviewrs869312175
scholarrs869312175
googlers869312175
pharmgkbrs869312175
gwascentralrs869312175
openSNPrs869312175
23andMers869312175
23andMe allrs869312175
SNP Nexus

SNPshotrs869312175
SNPdbers869312175
MSV3drs869312175
GWAS Ctlgrs869312175
Max Magnitude0
ClinVar
Risk rs869312175(;)
Alt rs869312175(;)
Reference rs869312175(C;C)
Significance Probable-Pathogenic
Disease Leber's amaurosis
Variation info
Gene CRX
CLNDBN Leber's amaurosis
Reversed 0
HGVS NC_000019.9:g.48342972delC
CLNSRC
CLNACC RCV000210309.1,