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rs727503731

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs727503731(-;-)
Make rs727503731(-;A)
Make rs727503731(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position216175368
GeneUSH2A
is asnp
is mentioned by
dbSNPrs727503731
ebirs727503731
HLIrs727503731
Exacrs727503731
Varsomers727503731
Maprs727503731
PheGenIrs727503731
hapmaprs727503731
1000 genomesrs727503731
hgdprs727503731
ensemblrs727503731
gopubmedrs727503731
geneviewrs727503731
scholarrs727503731
googlers727503731
pharmgkbrs727503731
gwascentralrs727503731
openSNPrs727503731
23andMers727503731
23andMe allrs727503731
SNP Nexus

SNPshotrs727503731
SNPdbers727503731
MSV3drs727503731
GWAS Ctlgrs727503731
Max Magnitude0
ClinVar
Risk rs727503731(A;A)
Alt rs727503731(A;A)
Reference rs727503731(;)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.216348711dupT
CLNSRC
CLNACC RCV000152615.1,