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rs750228923

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs750228923(-;-)
Make rs750228923(-;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position216324282
GeneUSH2A
is asnp
is mentioned by
dbSNPrs750228923
ebirs750228923
HLIrs750228923
Exacrs750228923
Varsomers750228923
Maprs750228923
PheGenIrs750228923
hapmaprs750228923
1000 genomesrs750228923
hgdprs750228923
ensemblrs750228923
gopubmedrs750228923
geneviewrs750228923
scholarrs750228923
googlers750228923
pharmgkbrs750228923
gwascentralrs750228923
openSNPrs750228923
23andMers750228923
23andMe allrs750228923
SNP Nexus

SNPshotrs750228923
SNPdbers750228923
MSV3drs750228923
GWAS Ctlgrs750228923
Max Magnitude0
ClinVar
Risk rs750228923(;)
Alt rs750228923(;)
Reference rs750228923(T;T)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 0
HGVS NC_000001.10:g.216497624delT
CLNSRC
CLNACC RCV000169682.1,