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rs202138002

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs202138002(A;A)
Make rs202138002(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position132621535
GeneP2RX2
is asnp
is mentioned by
dbSNPrs202138002
dbSNP (old)rs202138002
ClinGenrs202138002
ebirs202138002
HLIrs202138002
Exacrs202138002
Gnomadrs202138002
Varsomers202138002
Maprs202138002
PheGenIrs202138002
Biobankrs202138002
1000 genomesrs202138002
hgdprs202138002
ensemblrs202138002
gopubmedrs202138002
geneviewrs202138002
scholarrs202138002
googlers202138002
pharmgkbrs202138002
gwascentralrs202138002
openSNPrs202138002
23andMers202138002
23andMe allrs202138002
SNP Nexus

SNPshotrs202138002
SNPdbers202138002
MSV3drs202138002
GWAS Ctlgrs202138002
Max Magnitude0
ClinVar
Risk rs202138002(A;A) rs202138002(C;C)
Alt rs202138002(A;A) rs202138002(C;C)
Reference Rs202138002(G;G)
Significance Pathogenic
Disease Deafness
Variation info
Gene P2RX2
CLNDBN Deafness, autosomal dominant 41
Reversed 0
HGVS NC_000012.11:g.133198121G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000143843.2,