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rs786205115

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs786205115(-;T)
Make rs786205115(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position216217414
GeneLOC105372918, USH2A
is asnp
is mentioned by
dbSNPrs786205115
dbSNP (classic)rs786205115
ClinGenrs786205115
ebirs786205115
HLIrs786205115
Exacrs786205115
Gnomadrs786205115
Varsomers786205115
LitVarrs786205115
Maprs786205115
PheGenIrs786205115
Biobankrs786205115
1000 genomesrs786205115
hgdprs786205115
ensemblrs786205115
geneviewrs786205115
scholarrs786205115
googlers786205115
pharmgkbrs786205115
gwascentralrs786205115
openSNPrs786205115
23andMers786205115
SNPshotrs786205115
SNPdbers786205115
MSV3drs786205115
GWAS Ctlgrs786205115
Max Magnitude0
ClinVar
Risk rs786205115(T;T)
Alt rs786205115(T;T)
Reference Rs786205115(-;-)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.216390757dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000023701.3,