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rs397518043

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs397518043(-;-)
Make rs397518043(-;GCCA)
Make rs397518043(GCCA;GCCA)
ReferenceGRCh38 38.1/141
Chromosome1
Position216325524
GeneUSH2A
is asnp
is mentioned by
dbSNPrs397518043
ebirs397518043
HLIrs397518043
Exacrs397518043
Varsomers397518043
Maprs397518043
PheGenIrs397518043
hapmaprs397518043
1000 genomesrs397518043
hgdprs397518043
ensemblrs397518043
gopubmedrs397518043
geneviewrs397518043
scholarrs397518043
googlers397518043
pharmgkbrs397518043
gwascentralrs397518043
openSNPrs397518043
23andMers397518043
23andMe allrs397518043
SNP Nexus

SNPshotrs397518043
SNPdbers397518043
MSV3drs397518043
GWAS Ctlgrs397518043
Max Magnitude0
ClinVar
Risk rs397518043(GCCA;GCCA)
Alt rs397518043(GCCA;GCCA)
Reference rs397518043(;)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.216498867_216498870dupTGGC
CLNSRC ClinVar
CLNACC RCV000041941.3,