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rs730880349

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs730880349(-;-)
Make rs730880349(-;T)
Make rs730880349(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position216251077
GeneUSH2A
is asnp
is mentioned by
dbSNPrs730880349
ebirs730880349
HLIrs730880349
Exacrs730880349
Varsomers730880349
Maprs730880349
PheGenIrs730880349
hapmaprs730880349
1000 genomesrs730880349
hgdprs730880349
ensemblrs730880349
gopubmedrs730880349
geneviewrs730880349
scholarrs730880349
googlers730880349
pharmgkbrs730880349
gwascentralrs730880349
openSNPrs730880349
23andMers730880349
23andMe allrs730880349
SNP Nexus

SNPshotrs730880349
SNPdbers730880349
MSV3drs730880349
GWAS Ctlgrs730880349
Max Magnitude0
ClinVar
Risk rs730880349(T;T)
Alt rs730880349(T;T)
Reference rs730880349(;)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.216424420dupA
CLNSRC
CLNACC RCV000155748.1,