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rs780383722

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs780383722(A;A)
Make rs780383722(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position55684952
GenePNPT1
is asnp
is mentioned by
dbSNPrs780383722
dbSNP (classic)rs780383722
ClinGenrs780383722
ebirs780383722
HLIrs780383722
Exacrs780383722
Gnomadrs780383722
Varsomers780383722
LitVarrs780383722
Maprs780383722
PheGenIrs780383722
Biobankrs780383722
1000 genomesrs780383722
hgdprs780383722
ensemblrs780383722
geneviewrs780383722
scholarrs780383722
googlers780383722
pharmgkbrs780383722
gwascentralrs780383722
openSNPrs780383722
23andMers780383722
SNPshotrs780383722
SNPdbers780383722
MSV3drs780383722
GWAS Ctlgrs780383722
Max Magnitude0
ClinVar
Risk rs780383722(A;A)
Alt rs780383722(A;A)
Reference Rs780383722(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene PNPT1
CLNDBN not provided
Reversed 0
HGVS NC_000002.11:g.55912087G>A
CLNSRC
CLNACC RCV000197484.1,