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rs748706627

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs748706627(A;A)
Make rs748706627(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome10
Position53866641
GenePCDH15
is asnp
is mentioned by
dbSNPrs748706627
ebirs748706627
HLIrs748706627
Exacrs748706627
Varsomers748706627
Maprs748706627
PheGenIrs748706627
hapmaprs748706627
1000 genomesrs748706627
hgdprs748706627
ensemblrs748706627
gopubmedrs748706627
geneviewrs748706627
scholarrs748706627
googlers748706627
pharmgkbrs748706627
gwascentralrs748706627
openSNPrs748706627
23andMers748706627
23andMe allrs748706627
SNP Nexus

SNPshotrs748706627
SNPdbers748706627
MSV3drs748706627
GWAS Ctlgrs748706627
Max Magnitude0
ClinVar
Risk rs748706627(A,T;A,T)
Alt rs748706627(A,T;A,T)
Reference rs748706627(C;C)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene PCDH15
CLNDBN Usher syndrome, type 1F
Reversed 0
HGVS NC_000010.10:g.55626401C>T
CLNSRC
CLNACC RCV000169489.1,