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rs587777377

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AACT;AACT) 0 common in clinvar
Make rs587777377(-;-)
Make rs587777377(-;AACT)
ReferenceGRCh38 38.1/142
Chromosome20
Position21132126
GeneKIZ
is asnp
is mentioned by
dbSNPrs587777377
ebirs587777377
HLIrs587777377
Exacrs587777377
Varsomers587777377
Maprs587777377
PheGenIrs587777377
hapmaprs587777377
1000 genomesrs587777377
hgdprs587777377
ensemblrs587777377
gopubmedrs587777377
geneviewrs587777377
scholarrs587777377
googlers587777377
pharmgkbrs587777377
gwascentralrs587777377
openSNPrs587777377
23andMers587777377
23andMe allrs587777377
SNP Nexus

SNPshotrs587777377
SNPdbers587777377
MSV3drs587777377
GWAS Ctlgrs587777377
Max Magnitude0
ClinVar
Risk rs587777377(;)
Alt rs587777377(;)
Reference rs587777377(AACT;AACT)
Significance Pathogenic
Disease Retinitis pigmentosa 69
Variation info
Gene PLK1S1
CLNDBN Retinitis pigmentosa 69
Reversed 0
HGVS NC_000020.10:g.21112767_21112770delAACT
CLNSRC OMIM Allelic Variant
CLNACC RCV000116210.6,