Source: BEFREE

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: rs1454647589
rs1454647589
SETD2
1.000 0.120 3 47124452 missense variant T/C snv 6.4E-06
CUI: C1710096
Disease: Sinonasal undifferentiated carcinoma
Sinonasal undifferentiated carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs375501235
rs375501235
SETD2
1.000 0.120 3 47122189 missense variant A/T snv 3.2E-05
CUI: C1710096
Disease: Sinonasal undifferentiated carcinoma
Sinonasal undifferentiated carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs76208147
rs76208147
SETD2
1.000 0.040 3 47121396 missense variant C/T snv 6.2E-02 2.8E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.010 1.000 1 2019 2019