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rs138983888

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs138983888(A;A)
Make rs138983888(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position54132877
GenePCDH15
is asnp
is mentioned by
dbSNPrs138983888
dbSNP (classic)rs138983888
ClinGenrs138983888
ebirs138983888
HLIrs138983888
Exacrs138983888
Gnomadrs138983888
Varsomers138983888
LitVarrs138983888
Maprs138983888
PheGenIrs138983888
Biobankrs138983888
1000 genomesrs138983888
hgdprs138983888
ensemblrs138983888
geneviewrs138983888
scholarrs138983888
googlers138983888
pharmgkbrs138983888
gwascentralrs138983888
openSNPrs138983888
23andMers138983888
SNPshotrs138983888
SNPdbers138983888
MSV3drs138983888
GWAS Ctlgrs138983888
Max Magnitude0
ClinVar
Risk rs138983888(A;A)
Alt rs138983888(A;A)
Reference Rs138983888(G;G)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene PCDH15
CLNDBN Usher syndrome, type 1F
Reversed 0
HGVS NC_000010.10:g.55892637G>A
CLNSRC
CLNACC RCV000412275.1,