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rs397518018

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs397518018(-;-)
Make rs397518018(-;A)
Make rs397518018(A;A)
ReferenceGRCh38 38.1/141
Chromosome1
Position216084863
GeneUSH2A
is asnp
is mentioned by
dbSNPrs397518018
ebirs397518018
HLIrs397518018
Exacrs397518018
Varsomers397518018
Maprs397518018
PheGenIrs397518018
hapmaprs397518018
1000 genomesrs397518018
hgdprs397518018
ensemblrs397518018
gopubmedrs397518018
geneviewrs397518018
scholarrs397518018
googlers397518018
pharmgkbrs397518018
gwascentralrs397518018
openSNPrs397518018
23andMers397518018
23andMe allrs397518018
SNP Nexus

SNPshotrs397518018
SNPdbers397518018
MSV3drs397518018
GWAS Ctlgrs397518018
Max Magnitude0
ClinVar
Risk rs397518018(A;A)
Alt rs397518018(A;A)
Reference rs397518018(;)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene LOC102723833 USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.216258206dupT
CLNSRC ClinVar
CLNACC RCV000041852.2,