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rs397518013

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AT;AT) 0 common in clinvar
Make rs397518013(-;-)
Make rs397518013(-;AT)
ReferenceGRCh38 38.1/141
Chromosome1
Position216199890
GeneUSH2A
is asnp
is mentioned by
dbSNPrs397518013
ebirs397518013
HLIrs397518013
Exacrs397518013
Varsomers397518013
Maprs397518013
PheGenIrs397518013
hapmaprs397518013
1000 genomesrs397518013
hgdprs397518013
ensemblrs397518013
gopubmedrs397518013
geneviewrs397518013
scholarrs397518013
googlers397518013
pharmgkbrs397518013
gwascentralrs397518013
openSNPrs397518013
23andMers397518013
23andMe allrs397518013
SNP Nexus

SNPshotrs397518013
SNPdbers397518013
MSV3drs397518013
GWAS Ctlgrs397518013
Max Magnitude0
ClinVar
Risk rs397518013(;)
Alt rs397518013(;)
Reference rs397518013(AT;AT)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.216373232_216373233delAT
CLNSRC ClinVar
CLNACC RCV000041829.2,