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rs397516633

From SNPedia

Orientationminus
Stabilizedminus
Make rs397516633(-;-)
Make rs397516633(-;A)
Make rs397516633(A;A)
ReferenceGRCh38.p7 38.3/151
Chromosome10
Position101010782
GenePDZD7
is asnp
is mentioned by
dbSNPrs397516633
dbSNP (classic)rs397516633
ClinGenrs397516633
ebirs397516633
HLIrs397516633
Exacrs397516633
Gnomadrs397516633
Varsomers397516633
LitVarrs397516633
Maprs397516633
PheGenIrs397516633
Biobankrs397516633
1000 genomesrs397516633
hgdprs397516633
ensemblrs397516633
geneviewrs397516633
scholarrs397516633
googlers397516633
pharmgkbrs397516633
gwascentralrs397516633
openSNPrs397516633
23andMers397516633
SNPshotrs397516633
SNPdbers397516633
MSV3drs397516633
GWAS Ctlgrs397516633
Max Magnitude0

aka NM_001195263.1(PDZD7):c.2107delA or (p.Ser703Valfs)

OMIM pathogenic variant