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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
ebirs62625014
HLIrs62625014
Exacrs62625014
Varsomers62625014
Maprs62625014
PheGenIrs62625014
hapmaprs62625014
1000 genomesrs62625014
hgdprs62625014
ensemblrs62625014
gopubmedrs62625014
geneviewrs62625014
scholarrs62625014
googlers62625014
pharmgkbrs62625014
gwascentralrs62625014
openSNPrs62625014
23andMers62625014
23andMe allrs62625014
SNP Nexus

SNPshotrs62625014
SNPdbers62625014
MSV3drs62625014
GWAS Ctlgrs62625014
GMAF0.0004591
Max Magnitude0
OMIM123825
Desc
Variant0003
Relatedalso
ClinVar
Risk rs62625014(A,C;A,C)
Alt rs62625014(A,C;A,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
CLNACC RCV000018440.27, RCV000199453.1,


GET Evidence
CNGA1-S320F
aa_change Ser320Phe
aa_change_short S320F
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0078125
summary