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rs587783019

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783019(C;T)
Make rs587783019(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position21325372
GeneRPGRIP1
is asnp
is mentioned by
dbSNPrs587783019
ebirs587783019
HLIrs587783019
Exacrs587783019
Varsomers587783019
Maprs587783019
PheGenIrs587783019
hapmaprs587783019
1000 genomesrs587783019
hgdprs587783019
ensemblrs587783019
gopubmedrs587783019
geneviewrs587783019
scholarrs587783019
googlers587783019
pharmgkbrs587783019
gwascentralrs587783019
openSNPrs587783019
23andMers587783019
23andMe allrs587783019
SNP Nexus

SNPshotrs587783019
SNPdbers587783019
MSV3drs587783019
GWAS Ctlgrs587783019
Max Magnitude0
ClinVar
Risk rs587783019(T;T)
Alt rs587783019(T;T)
Reference rs587783019(C;C)
Significance Pathogenic
Disease Leber congenital amaurosis 6
Variation info
Gene RPGRIP1
CLNDBN Leber congenital amaurosis 6
Reversed 0
HGVS NC_000014.8:g.21793531C>T
CLNSRC
CLNACC RCV000144470.1,