Have questions? Visit https://www.reddit.com/r/SNPedia

rs754012367

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGTC;AGTC) 0 common in clinvar
Make rs754012367(-;-)
Make rs754012367(-;AGTC)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position149866193
GenePDE6A
is asnp
is mentioned by
dbSNPrs754012367
dbSNP (classic)rs754012367
ClinGenrs754012367
ebirs754012367
HLIrs754012367
Exacrs754012367
Gnomadrs754012367
Varsomers754012367
LitVarrs754012367
Maprs754012367
PheGenIrs754012367
Biobankrs754012367
1000 genomesrs754012367
hgdprs754012367
ensemblrs754012367
geneviewrs754012367
scholarrs754012367
googlers754012367
pharmgkbrs754012367
gwascentralrs754012367
openSNPrs754012367
23andMers754012367
SNPshotrs754012367
SNPdbers754012367
MSV3drs754012367
GWAS Ctlgrs754012367
Max Magnitude0
ClinVar
Risk rs754012367(-;-)
Alt rs754012367(-;-)
Reference Rs754012367(AGTC;AGTC)
Significance Pathogenic
Disease Retinitis pigmentosa 43
Variation info
Gene PDE6A
CLNDBN Retinitis pigmentosa 43
Reversed 0
HGVS NC_000005.9:g.149245756_149245759delAGTC
CLNSRC
CLNACC RCV000176038.1,