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rs727504761

From SNPedia

Orientationplus
Geno Mag Summary
(GACTGGGA;GACTGGGA) 0 common in clinvar
Make rs727504761(-;-)
Make rs727504761(-;ACTGGGAG)
Make rs727504761(ACTGGGAG;ACTGGGAG)
ReferenceGRCh38.p2 38.2/144
Chromosome10
Position71805912
GeneCDH23
is asnp
is mentioned by
dbSNPrs727504761
ebirs727504761
HLIrs727504761
Exacrs727504761
Varsomers727504761
Maprs727504761
PheGenIrs727504761
hapmaprs727504761
1000 genomesrs727504761
hgdprs727504761
ensemblrs727504761
gopubmedrs727504761
geneviewrs727504761
scholarrs727504761
googlers727504761
pharmgkbrs727504761
gwascentralrs727504761
openSNPrs727504761
23andMers727504761
23andMe allrs727504761
SNP Nexus

SNPshotrs727504761
SNPdbers727504761
MSV3drs727504761
GWAS Ctlgrs727504761
Max Magnitude0
ClinVar
Risk rs727504761(;)
Alt rs727504761(;)
Reference rs727504761(GACTGGGA;GACTGGGA)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene CDH23
CLNDBN Usher syndrome, type 1D
Reversed 0
HGVS NC_000010.10:g.73565669_73565676delACTGGGAG
CLNSRC
CLNACC RCV000156071.1,