Have questions? Visit https://www.reddit.com/r/SNPedia

rs786205116

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs786205116(-;T)
Make rs786205116(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position215845988
GeneUSH2A
is asnp
is mentioned by
dbSNPrs786205116
dbSNP (classic)rs786205116
ClinGenrs786205116
ebirs786205116
HLIrs786205116
Exacrs786205116
Gnomadrs786205116
Varsomers786205116
LitVarrs786205116
Maprs786205116
PheGenIrs786205116
Biobankrs786205116
1000 genomesrs786205116
hgdprs786205116
ensemblrs786205116
geneviewrs786205116
scholarrs786205116
googlers786205116
pharmgkbrs786205116
gwascentralrs786205116
openSNPrs786205116
23andMers786205116
SNPshotrs786205116
SNPdbers786205116
MSV3drs786205116
GWAS Ctlgrs786205116
Max Magnitude0
ClinVar
Risk rs786205116(T;T)
Alt rs786205116(T;T)
Reference Rs786205116(-;-)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.216019331dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000023702.3,