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rs751411512

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs751411512(C;T)
Make rs751411512(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position215674200
GeneUSH2A
is asnp
is mentioned by
dbSNPrs751411512
ebirs751411512
HLIrs751411512
Exacrs751411512
Varsomers751411512
Maprs751411512
PheGenIrs751411512
hapmaprs751411512
1000 genomesrs751411512
hgdprs751411512
ensemblrs751411512
gopubmedrs751411512
geneviewrs751411512
scholarrs751411512
googlers751411512
pharmgkbrs751411512
gwascentralrs751411512
openSNPrs751411512
23andMers751411512
23andMe allrs751411512
SNP Nexus

SNPshotrs751411512
SNPdbers751411512
MSV3drs751411512
GWAS Ctlgrs751411512
Max Magnitude0
ClinVar
Risk rs751411512(T;T)
Alt rs751411512(T;T)
Reference rs751411512(C;C)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 0
HGVS NC_000001.10:g.215847542C>A
CLNSRC
CLNACC RCV000216826.1,