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: rs121913400
rs121913400
0.683 0.360 3 41224610 missense variant C/A;G;T snv
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.810 1.000 2 2000 2016
dbSNP: rs121913228
rs121913228
0.742 0.200 3 41224621 missense variant T/C;G snv
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.800 1.000 2 2000 2016
dbSNP: rs1291513037
rs1291513037
APC
1.000 0.040 5 112839481 missense variant C/T snv 4.0E-06
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.700 1.000 1 2000 2000
dbSNP: rs878853445
rs878853445
APC
1.000 0.040 5 112840008 missense variant G/A snv 8.0E-06
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.700 1.000 1 2000 2000