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rs137853020

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137853020(C;C)
Make rs137853020(C;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position2660912
GeneIDH3B
is asnp
is mentioned by
dbSNPrs137853020
dbSNP (classic)rs137853020
ClinGenrs137853020
ebirs137853020
HLIrs137853020
Exacrs137853020
Gnomadrs137853020
Varsomers137853020
LitVarrs137853020
Maprs137853020
PheGenIrs137853020
Biobankrs137853020
1000 genomesrs137853020
hgdprs137853020
ensemblrs137853020
geneviewrs137853020
scholarrs137853020
googlers137853020
pharmgkbrs137853020
gwascentralrs137853020
openSNPrs137853020
23andMers137853020
SNPshotrs137853020
SNPdbers137853020
MSV3drs137853020
GWAS Ctlgrs137853020
Max Magnitude0
OMIM604526
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137853020(C;C)
Alt rs137853020(C;C)
Reference Rs137853020(T;T)
Significance Pathogenic
Disease Retinitis pigmentosa 46
Variation info
Gene IDH3B
CLNDBN Retinitis pigmentosa 46
Reversed 1
HGVS NC_000020.10:g.2641558A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005841.2,