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rs398123053

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398123053(G;G)
Make rs398123053(G;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position57248570
GeneARL2BP
is asnp
is mentioned by
dbSNPrs398123053
ebirs398123053
HLIrs398123053
Exacrs398123053
Varsomers398123053
Maprs398123053
PheGenIrs398123053
hapmaprs398123053
1000 genomesrs398123053
hgdprs398123053
ensemblrs398123053
gopubmedrs398123053
geneviewrs398123053
scholarrs398123053
googlers398123053
pharmgkbrs398123053
gwascentralrs398123053
openSNPrs398123053
23andMers398123053
23andMe allrs398123053
SNP Nexus

SNPshotrs398123053
SNPdbers398123053
MSV3drs398123053
GWAS Ctlgrs398123053
Max Magnitude0
ClinVar
Risk rs398123053(G;G)
Alt rs398123053(G;G)
Reference rs398123053(T;T)
Significance Pathogenic
Disease Retinitis pigmentosa without situs inversus
Variation info
Gene ARL2BP
CLNDBN Retinitis pigmentosa without situs inversus
Reversed 0
HGVS NC_000016.9:g.57282482T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000055665.3,