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rs375412499

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs375412499(C;T)
Make rs375412499(T;T)
ReferenceGRCh38 38.1/142
Chromosome4
Position47937655
GeneCNGA1, LOC101927157
is asnp
is mentioned by
dbSNPrs375412499
dbSNP (classic)rs375412499
ClinGenrs375412499
ebirs375412499
HLIrs375412499
Exacrs375412499
Gnomadrs375412499
Varsomers375412499
LitVarrs375412499
Maprs375412499
PheGenIrs375412499
Biobankrs375412499
1000 genomesrs375412499
hgdprs375412499
ensemblrs375412499
geneviewrs375412499
scholarrs375412499
googlers375412499
pharmgkbrs375412499
gwascentralrs375412499
openSNPrs375412499
23andMers375412499
SNPshotrs375412499
SNPdbers375412499
MSV3drs375412499
GWAS Ctlgrs375412499
Max Magnitude0
ClinVar
Risk rs375412499(T;T)
Alt rs375412499(T;T)
Reference Rs375412499(C;C)
Significance Probable-Pathogenic
Disease Retinitis pigmentosa
Variation info
Gene CNGA1 LOC101927157
CLNDBN Retinitis pigmentosa
Reversed 0
HGVS NC_000004.11:g.47939672C>T
CLNSRC ClinVar
CLNACC RCV000132617.1,