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rs397518029

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397518029(C;G)
Make rs397518029(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position215934672
GeneUSH2A
is asnp
is mentioned by
dbSNPrs397518029
ebirs397518029
HLIrs397518029
Exacrs397518029
Varsomers397518029
Maprs397518029
PheGenIrs397518029
hapmaprs397518029
1000 genomesrs397518029
hgdprs397518029
ensemblrs397518029
gopubmedrs397518029
geneviewrs397518029
scholarrs397518029
googlers397518029
pharmgkbrs397518029
gwascentralrs397518029
openSNPrs397518029
23andMers397518029
23andMe allrs397518029
SNP Nexus

SNPshotrs397518029
SNPdbers397518029
MSV3drs397518029
GWAS Ctlgrs397518029
Max Magnitude0
ClinVar
Risk rs397518029(G;G)
Alt rs397518029(G;G)
Reference rs397518029(C;C)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.216108014G>C
CLNSRC ClinVar
CLNACC RCV000041905.2,