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rs192003551

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs192003551(C;T)
Make rs192003551(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position21294745
GeneRPGRIP1
is asnp
is mentioned by
dbSNPrs192003551
ebirs192003551
HLIrs192003551
Exacrs192003551
Varsomers192003551
Maprs192003551
PheGenIrs192003551
hapmaprs192003551
1000 genomesrs192003551
hgdprs192003551
ensemblrs192003551
gopubmedrs192003551
geneviewrs192003551
scholarrs192003551
googlers192003551
pharmgkbrs192003551
gwascentralrs192003551
openSNPrs192003551
23andMers192003551
23andMe allrs192003551
SNP Nexus

SNPshotrs192003551
SNPdbers192003551
MSV3drs192003551
GWAS Ctlgrs192003551
Max Magnitude0
ClinVar
Risk rs192003551(T;T)
Alt rs192003551(T;T)
Reference rs192003551(C;C)
Significance Pathogenic
Disease Cone-rod dystrophy 13
Variation info
Gene RPGRIP1
CLNDBN Cone-rod dystrophy 13
Reversed 0
HGVS NC_000014.8:g.21762904C>T
CLNSRC
CLNACC RCV000175918.1,