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rs62625014

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs62625014(A;A)
Make rs62625014(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position47937535
GeneCNGA1, LOC101927157
is asnp
is mentioned by
dbSNPrs62625014
dbSNP (classic)rs62625014
ClinGenrs62625014
ebirs62625014
HLIrs62625014
Exacrs62625014
Gnomadrs62625014
Varsomers62625014
LitVarrs62625014
Maprs62625014
PheGenIrs62625014
Biobankrs62625014
1000 genomesrs62625014
hgdprs62625014
ensemblrs62625014
geneviewrs62625014
scholarrs62625014
googlers62625014
pharmgkbrs62625014
gwascentralrs62625014
openSNPrs62625014
23andMers62625014
SNPshotrs62625014
SNPdbers62625014
MSV3drs62625014
GWAS Ctlgrs62625014
GMAF0.0004591
Max Magnitude0
OMIM123825
Desc
Variant0003
Relatedalso
ClinVar
Risk rs62625014(A;A) rs62625014(C;C)
Alt rs62625014(A;A) rs62625014(C;C)
Reference Rs62625014(G;G)
Significance Pathogenic
Disease Retinitis pigmentosa 49
Variation info
Gene CNGA1 LOC101927157
CLNDBN Retinitis pigmentosa 49
Reversed 0
HGVS NC_000004.11:g.47939552G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000018440.27, RCV000199453.1,