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rs727504867

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727504867(C;T)
Make rs727504867(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position215650687
GeneUSH2A
is asnp
is mentioned by
dbSNPrs727504867
ebirs727504867
HLIrs727504867
Exacrs727504867
Varsomers727504867
Maprs727504867
PheGenIrs727504867
hapmaprs727504867
1000 genomesrs727504867
hgdprs727504867
ensemblrs727504867
gopubmedrs727504867
geneviewrs727504867
scholarrs727504867
googlers727504867
pharmgkbrs727504867
gwascentralrs727504867
openSNPrs727504867
23andMers727504867
23andMe allrs727504867
SNP Nexus

SNPshotrs727504867
SNPdbers727504867
MSV3drs727504867
GWAS Ctlgrs727504867
Max Magnitude0
ClinVar
Risk rs727504867(T;T)
Alt rs727504867(T;T)
Reference rs727504867(C;C)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.215824029G>A
CLNSRC
CLNACC RCV000156228.1,