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rs375668376

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs375668376(C;T)
Make rs375668376(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position216073292
GeneUSH2A
is asnp
is mentioned by
dbSNPrs375668376
ebirs375668376
HLIrs375668376
Exacrs375668376
Varsomers375668376
Maprs375668376
PheGenIrs375668376
hapmaprs375668376
1000 genomesrs375668376
hgdprs375668376
ensemblrs375668376
gopubmedrs375668376
geneviewrs375668376
scholarrs375668376
googlers375668376
pharmgkbrs375668376
gwascentralrs375668376
openSNPrs375668376
23andMers375668376
23andMe allrs375668376
SNP Nexus

SNPshotrs375668376
SNPdbers375668376
MSV3drs375668376
GWAS Ctlgrs375668376
Max Magnitude0
ClinVar
Risk rs375668376(T;T)
Alt rs375668376(T;T)
Reference rs375668376(C;C)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene LOC102723833 USH2A
CLNDBN Usher syndrome, type 2A
Reversed 0
HGVS NC_000001.10:g.216246634C>T
CLNSRC ClinVar
CLNACC RCV000041861.2,