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rs111033518

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111033518(A;A)
Make rs111033518(A;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position215675619
GeneUSH2A
is asnp
is mentioned by
dbSNPrs111033518
ebirs111033518
HLIrs111033518
Exacrs111033518
Varsomers111033518
Maprs111033518
PheGenIrs111033518
hapmaprs111033518
1000 genomesrs111033518
hgdprs111033518
ensemblrs111033518
gopubmedrs111033518
geneviewrs111033518
scholarrs111033518
googlers111033518
pharmgkbrs111033518
gwascentralrs111033518
openSNPrs111033518
23andMers111033518
23andMe allrs111033518
SNP Nexus

SNPshotrs111033518
SNPdbers111033518
MSV3drs111033518
GWAS Ctlgrs111033518
Max Magnitude0
ClinVar
Risk rs111033518(A;A)
Alt rs111033518(A;A)
Reference rs111033518(T;T)
Significance Pathogenic
Disease not specified Usher syndrome
Variation info
Gene USH2A
CLNDBN not specified Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.215848961A>T
CLNSRC
CLNACC RCV000041717.3, RCV000179631.1,