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rs397518048

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397518048(G;T)
Make rs397518048(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position215817143
GeneUSH2A
is asnp
is mentioned by
dbSNPrs397518048
ebirs397518048
HLIrs397518048
Exacrs397518048
Varsomers397518048
Maprs397518048
PheGenIrs397518048
hapmaprs397518048
1000 genomesrs397518048
hgdprs397518048
ensemblrs397518048
gopubmedrs397518048
geneviewrs397518048
scholarrs397518048
googlers397518048
pharmgkbrs397518048
gwascentralrs397518048
openSNPrs397518048
23andMers397518048
23andMe allrs397518048
SNP Nexus

SNPshotrs397518048
SNPdbers397518048
MSV3drs397518048
GWAS Ctlgrs397518048
Max Magnitude0
ClinVar
Risk rs397518048(T;T)
Alt rs397518048(T;T)
Reference rs397518048(G;G)
Significance Pathogenic
Disease Retinitis pigmentosa 39 Usher syndrome
Variation info
Gene USH2A
CLNDBN Retinitis pigmentosa 39 Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.215990485C>A
CLNSRC ClinVar
CLNACC RCV000041952.2,