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rs587783012

From SNPedia

Orientationplus
Geno Mag Summary
(AAGGCCG;AAGGCCG) 0 common in clinvar
Make rs587783012(-;-)
Make rs587783012(-;CGAAGGC)
Make rs587783012(CGAAGGC;CGAAGGC)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position21345145
GeneRPGRIP1
is asnp
is mentioned by
dbSNPrs587783012
ebirs587783012
HLIrs587783012
Exacrs587783012
Varsomers587783012
Maprs587783012
PheGenIrs587783012
hapmaprs587783012
1000 genomesrs587783012
hgdprs587783012
ensemblrs587783012
gopubmedrs587783012
geneviewrs587783012
scholarrs587783012
googlers587783012
pharmgkbrs587783012
gwascentralrs587783012
openSNPrs587783012
23andMers587783012
23andMe allrs587783012
SNP Nexus

SNPshotrs587783012
SNPdbers587783012
MSV3drs587783012
GWAS Ctlgrs587783012
Max Magnitude0
ClinVar
Risk rs587783012(;)
Alt rs587783012(;)
Reference rs587783012(AAGGCCG;AAGGCCG)
Significance Pathogenic
Disease Leber congenital amaurosis 6
Variation info
Gene RPGRIP1
CLNDBN Leber congenital amaurosis 6
Reversed 0
HGVS NC_000014.8:g.21813304_21813310delCGAAGGC
CLNSRC
CLNACC RCV000144463.1,