Have questions? Visit https://www.reddit.com/r/SNPedia

rs727504301

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727504301(C;T)
Make rs727504301(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome10
Position54090054
GenePCDH15
is asnp
is mentioned by
dbSNPrs727504301
ebirs727504301
HLIrs727504301
Exacrs727504301
Varsomers727504301
Maprs727504301
PheGenIrs727504301
hapmaprs727504301
1000 genomesrs727504301
hgdprs727504301
ensemblrs727504301
gopubmedrs727504301
geneviewrs727504301
scholarrs727504301
googlers727504301
pharmgkbrs727504301
gwascentralrs727504301
openSNPrs727504301
23andMers727504301
23andMe allrs727504301
SNP Nexus

SNPshotrs727504301
SNPdbers727504301
MSV3drs727504301
GWAS Ctlgrs727504301
Max Magnitude0
ClinVar
Risk rs727504301(G,T;G,T)
Alt rs727504301(G,T;G,T)
Reference rs727504301(C;C)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene PCDH15
CLNDBN Usher syndrome, type 1F
Reversed 1
HGVS NC_000010.10:g.55849814G>A
CLNSRC
CLNACC RCV000154331.1,