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rs397518026

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397518026(A;A)
Make rs397518026(A;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position216365084
GeneUSH2A
is asnp
is mentioned by
dbSNPrs397518026
ebirs397518026
HLIrs397518026
Exacrs397518026
Varsomers397518026
Maprs397518026
PheGenIrs397518026
hapmaprs397518026
1000 genomesrs397518026
hgdprs397518026
ensemblrs397518026
gopubmedrs397518026
geneviewrs397518026
scholarrs397518026
googlers397518026
pharmgkbrs397518026
gwascentralrs397518026
openSNPrs397518026
23andMers397518026
23andMe allrs397518026
SNP Nexus

SNPshotrs397518026
SNPdbers397518026
MSV3drs397518026
GWAS Ctlgrs397518026
Max Magnitude0
ClinVar
Risk rs397518026(A,G;A,G)
Alt rs397518026(A,G;A,G)
Reference rs397518026(T;T)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.216538426A>T
CLNSRC ClinVar
CLNACC RCV000041890.2,