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rs587783018

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783018(C;T)
Make rs587783018(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position21307762
GeneRPGRIP1
is asnp
is mentioned by
dbSNPrs587783018
ebirs587783018
HLIrs587783018
Exacrs587783018
Varsomers587783018
Maprs587783018
PheGenIrs587783018
hapmaprs587783018
1000 genomesrs587783018
hgdprs587783018
ensemblrs587783018
gopubmedrs587783018
geneviewrs587783018
scholarrs587783018
googlers587783018
pharmgkbrs587783018
gwascentralrs587783018
openSNPrs587783018
23andMers587783018
23andMe allrs587783018
SNP Nexus

SNPshotrs587783018
SNPdbers587783018
MSV3drs587783018
GWAS Ctlgrs587783018
Max Magnitude0
ClinVar
Risk rs587783018(T;T)
Alt rs587783018(T;T)
Reference rs587783018(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.21775921C>T
CLNSRC
CLNACC RCV000144469.1,