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rs397517964

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs397517964(-;-)
Make rs397517964(-;AA)
ReferenceGRCh38 38.1/141
Chromosome1
Position215786866
GeneUSH2A
is asnp
is mentioned by
dbSNPrs397517964
ebirs397517964
HLIrs397517964
Exacrs397517964
Varsomers397517964
Maprs397517964
PheGenIrs397517964
hapmaprs397517964
1000 genomesrs397517964
hgdprs397517964
ensemblrs397517964
gopubmedrs397517964
geneviewrs397517964
scholarrs397517964
googlers397517964
pharmgkbrs397517964
gwascentralrs397517964
openSNPrs397517964
23andMers397517964
23andMe allrs397517964
SNP Nexus

SNPshotrs397517964
SNPdbers397517964
MSV3drs397517964
GWAS Ctlgrs397517964
Max Magnitude0
ClinVar
Risk rs397517964(;)
Alt rs397517964(;)
Reference rs397517964(AA;AA)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.215960208_215960209delTT
CLNSRC ClinVar
CLNACC RCV000041664.2,