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rs137853113

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853113(C;T)
Make rs137853113(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position23140784
GeneKLHL7
is asnp
is mentioned by
dbSNPrs137853113
dbSNP (classic)rs137853113
ClinGenrs137853113
ebirs137853113
HLIrs137853113
Exacrs137853113
Gnomadrs137853113
Varsomers137853113
LitVarrs137853113
Maprs137853113
PheGenIrs137853113
Biobankrs137853113
1000 genomesrs137853113
hgdprs137853113
ensemblrs137853113
geneviewrs137853113
scholarrs137853113
googlers137853113
pharmgkbrs137853113
gwascentralrs137853113
openSNPrs137853113
23andMers137853113
SNPshotrs137853113
SNPdbers137853113
MSV3drs137853113
GWAS Ctlgrs137853113
Max Magnitude0
OMIM611119
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137853113(T;T)
Alt rs137853113(T;T)
Reference Rs137853113(C;C)
Significance Pathogenic
Disease Retinitis pigmentosa 42 not provided
Variation info
Gene KLHL7
CLNDBN Retinitis pigmentosa 42 not provided
Reversed 0
HGVS NC_000007.13:g.23180403C>T
CLNSRC HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001064.2, RCV000079374.4,