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rs145882709

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs145882709(A;A)
Make rs145882709(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position112233216
GenePTS
is asnp
is mentioned by
dbSNPrs145882709
dbSNP (classic)rs145882709
ClinGenrs145882709
ebirs145882709
HLIrs145882709
Exacrs145882709
Gnomadrs145882709
Varsomers145882709
LitVarrs145882709
Maprs145882709
PheGenIrs145882709
Biobankrs145882709
1000 genomesrs145882709
hgdprs145882709
ensemblrs145882709
geneviewrs145882709
scholarrs145882709
googlers145882709
pharmgkbrs145882709
gwascentralrs145882709
openSNPrs145882709
23andMers145882709
23andMe allrs145882709
SNPshotrs145882709
SNPdbers145882709
MSV3drs145882709
GWAS Ctlgrs145882709
Max Magnitude0
ClinVar
Risk rs145882709(A;A)
Alt rs145882709(A;A)
Reference Rs145882709(C;C)
Significance Probable-Pathogenic
Disease 6-pyruvoyl-tetrahydropterin synthase deficiency
Variation info
Gene PTS
CLNDBN 6-pyruvoyl-tetrahydropterin synthase deficiency
Reversed 0
HGVS NC_000011.9:g.112103939C>A
CLNSRC
CLNACC RCV000410240.1,