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rs754391973

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs754391973(A;A)
Make rs754391973(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome10
Position53961790
GenePCDH15
is asnp
is mentioned by
dbSNPrs754391973
ebirs754391973
HLIrs754391973
Exacrs754391973
Varsomers754391973
Maprs754391973
PheGenIrs754391973
hapmaprs754391973
1000 genomesrs754391973
hgdprs754391973
ensemblrs754391973
gopubmedrs754391973
geneviewrs754391973
scholarrs754391973
googlers754391973
pharmgkbrs754391973
gwascentralrs754391973
openSNPrs754391973
23andMers754391973
23andMe allrs754391973
SNP Nexus

SNPshotrs754391973
SNPdbers754391973
MSV3drs754391973
GWAS Ctlgrs754391973
Max Magnitude0
ClinVar
Risk rs754391973(A,C;A,C)
Alt rs754391973(A,C;A,C)
Reference rs754391973(G;G)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene PCDH15
CLNDBN Usher syndrome, type 1D
Reversed 0
HGVS NC_000010.10:g.55721550G>A
CLNSRC
CLNACC RCV000210315.1,