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rs587776538

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(C;C) 0 common in clinvar
Make rs587776538(-;-)
Make rs587776538(-;GATC)
Make rs587776538(GATC;GATC)
ReferenceGRCh38 38.1/142
Chromosome1
Position216422096
GeneUSH2A
is asnp
is mentioned by
dbSNPrs587776538
ebirs587776538
HLIrs587776538
Exacrs587776538
Varsomers587776538
Maprs587776538
PheGenIrs587776538
hapmaprs587776538
1000 genomesrs587776538
hgdprs587776538
ensemblrs587776538
gopubmedrs587776538
geneviewrs587776538
scholarrs587776538
googlers587776538
pharmgkbrs587776538
gwascentralrs587776538
openSNPrs587776538
23andMers587776538
23andMe allrs587776538
SNP Nexus

SNPshotrs587776538
SNPdbers587776538
MSV3drs587776538
GWAS Ctlgrs587776538
Max Magnitude0
ClinVar
Risk rs587776538(GTACC,GATCC;GTACC,GATCC)
Alt rs587776538(GTACC,GATCC;GTACC,GATCC)
Reference rs587776538(C;C)
Significance Pathogenic
Disease Usher syndrome Retinitis pigmentosa 39 Non-syndromic genetic deafness
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A Retinitis pigmentosa 39 Non-syndromic genetic deafness
Reversed 1
HGVS NC_000001.10:g.216595438_216595439insGATC; NC_000001.10:g.216595438_216595439insGTAC
CLNSRC OMIM Allelic Variant
CLNACC RCV000002454.4, RCV000002455.4, RCV000225035.1,