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rs397518012

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397518012(-;-)
Make rs397518012(-;A)
ReferenceGRCh38 38.1/141
Chromosome1
Position216200003
GeneUSH2A
is asnp
is mentioned by
dbSNPrs397518012
ebirs397518012
HLIrs397518012
Exacrs397518012
Varsomers397518012
Maprs397518012
PheGenIrs397518012
hapmaprs397518012
1000 genomesrs397518012
hgdprs397518012
ensemblrs397518012
gopubmedrs397518012
geneviewrs397518012
scholarrs397518012
googlers397518012
pharmgkbrs397518012
gwascentralrs397518012
openSNPrs397518012
23andMers397518012
23andMe allrs397518012
SNP Nexus

SNPshotrs397518012
SNPdbers397518012
MSV3drs397518012
GWAS Ctlgrs397518012
Max Magnitude0
ClinVar
Risk rs397518012(;)
Alt rs397518012(;)
Reference rs397518012(A;A)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.216373345delT
CLNSRC ClinVar
CLNACC RCV000041828.2,