Have questions? Visit https://www.reddit.com/r/SNPedia

rs397517978

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397517978(A;G)
Make rs397517978(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position215680378
GeneUSH2A
is asnp
is mentioned by
dbSNPrs397517978
ebirs397517978
HLIrs397517978
Exacrs397517978
Varsomers397517978
Maprs397517978
PheGenIrs397517978
hapmaprs397517978
1000 genomesrs397517978
hgdprs397517978
ensemblrs397517978
gopubmedrs397517978
geneviewrs397517978
scholarrs397517978
googlers397517978
pharmgkbrs397517978
gwascentralrs397517978
openSNPrs397517978
23andMers397517978
23andMe allrs397517978
SNP Nexus

SNPshotrs397517978
SNPdbers397517978
MSV3drs397517978
GWAS Ctlgrs397517978
Max Magnitude0
ClinVar
Risk rs397517978(G;G)
Alt rs397517978(G;G)
Reference rs397517978(A;A)
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.215853720T>C
CLNSRC ClinVar
CLNACC RCV000041712.2,