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rs397518021

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397518021(C;T)
Make rs397518021(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position216072958
GeneUSH2A
is asnp
is mentioned by
dbSNPrs397518021
ebirs397518021
HLIrs397518021
Exacrs397518021
Varsomers397518021
Maprs397518021
PheGenIrs397518021
hapmaprs397518021
1000 genomesrs397518021
hgdprs397518021
ensemblrs397518021
gopubmedrs397518021
geneviewrs397518021
scholarrs397518021
googlers397518021
pharmgkbrs397518021
gwascentralrs397518021
openSNPrs397518021
23andMers397518021
23andMe allrs397518021
SNP Nexus

SNPshotrs397518021
SNPdbers397518021
MSV3drs397518021
GWAS Ctlgrs397518021
Max Magnitude0
ClinVar
Risk rs397518021(T;T)
Alt rs397518021(T;T)
Reference rs397518021(C;C)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene LOC102723833 USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.216246300G>A
CLNSRC ClinVar
CLNACC RCV000041869.2,