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rs397518015

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs397518015(-;-)
Make rs397518015(-;TC)
Make rs397518015(TC;TC)
ReferenceGRCh38 38.1/141
Chromosome1
Position216196669
GeneUSH2A
is asnp
is mentioned by
dbSNPrs397518015
ebirs397518015
HLIrs397518015
Exacrs397518015
Varsomers397518015
Maprs397518015
PheGenIrs397518015
hapmaprs397518015
1000 genomesrs397518015
hgdprs397518015
ensemblrs397518015
gopubmedrs397518015
geneviewrs397518015
scholarrs397518015
googlers397518015
pharmgkbrs397518015
gwascentralrs397518015
openSNPrs397518015
23andMers397518015
23andMe allrs397518015
SNP Nexus

SNPshotrs397518015
SNPdbers397518015
MSV3drs397518015
GWAS Ctlgrs397518015
Max Magnitude0
ClinVar
Risk rs397518015(TC;TC)
Alt rs397518015(TC;TC)
Reference rs397518015(;)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.216370012_216370013dupGA
CLNSRC ClinVar
CLNACC RCV000041838.2,