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rs41265017

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs41265017(A;A)
Make rs41265017(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position156176849
GeneSEMA4A
is asnp
is mentioned by
dbSNPrs41265017
ebirs41265017
HLIrs41265017
Exacrs41265017
Varsomers41265017
Maprs41265017
PheGenIrs41265017
hapmaprs41265017
1000 genomesrs41265017
hgdprs41265017
ensemblrs41265017
gopubmedrs41265017
geneviewrs41265017
scholarrs41265017
googlers41265017
pharmgkbrs41265017
gwascentralrs41265017
openSNPrs41265017
23andMers41265017
23andMe allrs41265017
SNP Nexus

SNPshotrs41265017
SNPdbers41265017
MSV3drs41265017
GWAS Ctlgrs41265017
GMAF0.03076
Max Magnitude0
OMIM607292
Desc
Variant0003
Relatedalso


GET Evidence
SEMA4A-R713Q
aa_change Arg713Gln
aa_change_short R713Q
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.0369957
summary



ClinVar
Risk rs41265017(A;A)
Alt rs41265017(A;A)
Reference rs41265017(G;G)
Significance Pathogenic
Disease Retinitis pigmentosa 35 not specified
Variation info
Gene SEMA4A
CLNDBN Retinitis pigmentosa 35 not specified
Reversed 0
HGVS NC_000001.10:g.156146640G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003528.4, RCV000174949.1,