Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587777686
rs587777686
PRKDC
1.000 8 47789188 missense variant G/A snv
CUI: C4014833
Disease: IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES 		0.800 1.000 2 2009 2013
dbSNP: rs587777685
rs587777685
PRKDC
0.882 0.120 8 47820870 missense variant A/C snv
CUI: C4014833
Disease: IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES 		0.700 1.000 2 2009 2013
dbSNP: rs55735910
rs55735910
PRKDC
1.000 0.040 8 47881444 missense variant G/A snv 1.4E-05
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma 		0.700 0
dbSNP: rs758032015
rs758032015
PRKDC ; LOC105375818
1.000 0.040 8 47943872 missense variant C/A snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 0
dbSNP: rs781401034
rs781401034
PRKDC
1.000 0.080 8 47898527 missense variant C/T snv
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.700 0