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

rs397514599

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397514599(A;G)
Make rs397514599(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position55656148
GenePNPT1
is asnp
is mentioned by
dbSNPrs397514599
ebirs397514599
HLIrs397514599
Exacrs397514599
Varsomers397514599
Maprs397514599
PheGenIrs397514599
hapmaprs397514599
1000 genomesrs397514599
hgdprs397514599
ensemblrs397514599
gopubmedrs397514599
geneviewrs397514599
scholarrs397514599
googlers397514599
pharmgkbrs397514599
gwascentralrs397514599
openSNPrs397514599
23andMers397514599
23andMe allrs397514599
SNP Nexus

SNPshotrs397514599
SNPdbers397514599
MSV3drs397514599
GWAS Ctlgrs397514599
Max Magnitude0
ClinVar
Risk rs397514599(G;G)
Alt rs397514599(G;G)
Reference rs397514599(A;A)
Significance Pathogenic
Disease Deafness
Variation info
Gene PNPT1
CLNDBN Deafness, autosomal recessive 70
Reversed 1
HGVS NC_000002.11:g.55883283T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000033023.2,