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rs727503723

From SNPedia

Orientationminus
Geno Mag Summary
(ATA;ATA) 0 common in clinvar
Make rs727503723(-;-)
Make rs727503723(-;ATA)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position215993028
GeneUSH2A
is asnp
is mentioned by
dbSNPrs727503723
ebirs727503723
HLIrs727503723
Exacrs727503723
Varsomers727503723
Maprs727503723
PheGenIrs727503723
hapmaprs727503723
1000 genomesrs727503723
hgdprs727503723
ensemblrs727503723
gopubmedrs727503723
geneviewrs727503723
scholarrs727503723
googlers727503723
pharmgkbrs727503723
gwascentralrs727503723
openSNPrs727503723
23andMers727503723
23andMe allrs727503723
SNP Nexus

SNPshotrs727503723
SNPdbers727503723
MSV3drs727503723
GWAS Ctlgrs727503723
Max Magnitude0
ClinVar
Risk rs727503723(;)
Alt rs727503723(;)
Reference rs727503723(ATA;ATA)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.216166370_216166372delTAT
CLNSRC
CLNACC RCV000152599.1,