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: rs1064794096
rs1064794096
1.000 0.040 10 87864514 missense variant A/C;T snv
CUI: C0017638
Disease: Glioma
Glioma
0.700 0
dbSNP: rs1554893792
rs1554893792
1.000 0.040 10 87894052 missense variant G/A snv
CUI: C0017638
Disease: Glioma
Glioma
0.700 0
dbSNP: rs587782603
rs587782603
1.000 0.040 10 87952118 stop gained G/A;T snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.700 0
dbSNP: rs786202398
rs786202398
0.925 0.080 10 87925518 stop gained T/A;G snv
CUI: C0017638
Disease: Glioma
Glioma
0.700 0
dbSNP: rs786204855
rs786204855
1.000 0.080 10 87894084 missense variant A/G snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
0.700 0
dbSNP: rs786204859
rs786204859
0.925 0.080 10 87933166 missense variant G/A snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
0.700 0
dbSNP: rs786204863
rs786204863
1.000 0.080 10 87952119 missense variant G/T snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
0.700 0
dbSNP: rs786204929
rs786204929
0.752 0.200 10 87933144 stop gained G/A;T snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.700 0
dbSNP: rs786204931
rs786204931
0.925 0.120 10 87933126 missense variant C/G;T snv
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.700 0