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rs10902758

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
(G;G) 0 common in clinvar
Make rs10902758(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position654854
GeneTGM5
is asnp
is mentioned by
dbSNPrs10902758
ebirs10902758
HLIrs10902758
Exacrs10902758
Varsomers10902758
Maprs10902758
PheGenIrs10902758
hapmaprs10902758
1000 genomesrs10902758
hgdprs10902758
ensemblrs10902758
gopubmedrs10902758
geneviewrs10902758
scholarrs10902758
googlers10902758
pharmgkbrs10902758
gwascentralrs10902758
openSNPrs10902758
23andMers10902758
23andMe allrs10902758
SNP Nexus

SNPshotrs10902758
SNPdbers10902758
MSV3drs10902758
GWAS Ctlgrs10902758
GMAF0.0005
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene PDE6B
allele A
frequency
sift TOLERATED
HuRef 1103654313193
Disease Association Defects in PDE6B are a cause of autosomal dominant congenital stationary night blindness (CSNB3) (MIM:163500).



[PMID 19339744OA-icon.png] Genetic analysis of Indian families with autosomal recessive retinitis pigmentosa by homozygosity screening.


GET Evidence
PDE6B-V41I
aa_change Val41Ile
aa_change_short V41I
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency
summary



ClinVar
Risk rs10902758(A;A)
Alt rs10902758(A;A)
Reference rs10902758(G;G)
Significance Non-pathogenic
Disease not specified
Variation info
Gene PDE6B RP11-1191J2.2
CLNDBN not specified
Reversed 0
HGVS NC_000004.11:g.648643G>A
CLNSRC
CLNACC RCV000153663.3,