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rs137853114

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853114(A;A)
Make rs137853114(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position23140783
GeneKLHL7
is asnp
is mentioned by
dbSNPrs137853114
dbSNP (classic)rs137853114
ClinGenrs137853114
ebirs137853114
HLIrs137853114
Exacrs137853114
Gnomadrs137853114
Varsomers137853114
LitVarrs137853114
Maprs137853114
PheGenIrs137853114
Biobankrs137853114
1000 genomesrs137853114
hgdprs137853114
ensemblrs137853114
geneviewrs137853114
scholarrs137853114
googlers137853114
pharmgkbrs137853114
gwascentralrs137853114
openSNPrs137853114
23andMers137853114
SNPshotrs137853114
SNPdbers137853114
MSV3drs137853114
GWAS Ctlgrs137853114
Max Magnitude0
OMIM611119
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137853114(A;A)
Alt rs137853114(A;A)
Reference Rs137853114(G;G)
Significance Pathogenic
Disease Retinitis pigmentosa 42
Variation info
Gene KLHL7
CLNDBN Retinitis pigmentosa 42
Reversed 0
HGVS NC_000007.13:g.23180402G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001065.2,