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rs141252097

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs141252097(G;T)
Make rs141252097(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome5
Position149944370
GenePDE6A
is asnp
is mentioned by
dbSNPrs141252097
dbSNP (old)rs141252097
ClinGenrs141252097
ebirs141252097
HLIrs141252097
Exacrs141252097
Gnomadrs141252097
Varsomers141252097
LitVarrs141252097
Maprs141252097
PheGenIrs141252097
Biobankrs141252097
1000 genomesrs141252097
hgdprs141252097
ensemblrs141252097
gopubmedrs141252097
geneviewrs141252097
scholarrs141252097
googlers141252097
pharmgkbrs141252097
gwascentralrs141252097
openSNPrs141252097
23andMers141252097
23andMe allrs141252097
SNPshotrs141252097
SNPdbers141252097
MSV3drs141252097
GWAS Ctlgrs141252097
Max Magnitude0
ClinVar
Risk rs141252097(A;A) rs141252097(T;T)
Alt rs141252097(A;A) rs141252097(T;T)
Reference Rs141252097(G;G)
Significance Probable-Pathogenic
Disease not specified Retinitis Pigmentosa
Variation info
Gene PDE6A
CLNDBN not specified Retinitis Pigmentosa, Recessive
Reversed 0
HGVS NC_000005.9:g.149323933G>T
CLNSRC UniProtKB (protein)
CLNACC RCV000173136.1, RCV000407624.1,