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rs397518008

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397518008(-;-)
Make rs397518008(-;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position216232048
GeneUSH2A
is asnp
is mentioned by
dbSNPrs397518008
ebirs397518008
HLIrs397518008
Exacrs397518008
Varsomers397518008
Maprs397518008
PheGenIrs397518008
hapmaprs397518008
1000 genomesrs397518008
hgdprs397518008
ensemblrs397518008
gopubmedrs397518008
geneviewrs397518008
scholarrs397518008
googlers397518008
pharmgkbrs397518008
gwascentralrs397518008
openSNPrs397518008
23andMers397518008
23andMe allrs397518008
SNP Nexus

SNPshotrs397518008
SNPdbers397518008
MSV3drs397518008
GWAS Ctlgrs397518008
Max Magnitude0
ClinVar
Risk rs397518008(;)
Alt rs397518008(;)
Reference rs397518008(G;G)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.216405390delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000002446.4,