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rs786200928

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs786200928(A;G)
Make rs786200928(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position215891198
GeneUSH2A
is asnp
is mentioned by
dbSNPrs786200928
ebirs786200928
HLIrs786200928
Exacrs786200928
Varsomers786200928
Maprs786200928
PheGenIrs786200928
hapmaprs786200928
1000 genomesrs786200928
hgdprs786200928
ensemblrs786200928
gopubmedrs786200928
geneviewrs786200928
scholarrs786200928
googlers786200928
pharmgkbrs786200928
gwascentralrs786200928
openSNPrs786200928
23andMers786200928
23andMe allrs786200928
SNP Nexus

SNPshotrs786200928
SNPdbers786200928
MSV3drs786200928
GWAS Ctlgrs786200928
Max Magnitude0
ClinVar
Risk rs786200928(G;G)
Alt rs786200928(G;G)
Reference rs786200928(A;A)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.216064540T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000023700.4,