Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs387907105
rs387907105 		1.000 6 109475465 missense variant A/C snv 2.0E-05 2.1E-05
CUI: C3279748
Disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 		0.800 1.000 1 2011 2011
dbSNP: rs1046943
rs1046943 		1.000 0.040 6 109462738 3 prime UTR variant A/G snv 0.52
CUI: C0489786
Disease: Height
Height 		0.700 1.000 1 2010 2010
dbSNP: rs1046943
rs1046943 		1.000 0.040 6 109462738 3 prime UTR variant A/G snv 0.52
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2010 2010
dbSNP: rs12203098
rs12203098 		6 109473880 intron variant A/G snv 4.7E-02
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs12203098
rs12203098 		6 109473880 intron variant A/G snv 4.7E-02
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs370370334
rs370370334 		1.000 6 109481980 stop gained G/C snv 4.0E-06 2.1E-05
CUI: C3279748
Disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 		0.700 0
dbSNP: rs387907104
rs387907104 		1.000 6 109476925 stop gained G/A snv 4.0E-06 2.8E-05
CUI: C3279748
Disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 		0.700 0
dbSNP: rs387907106
rs387907106 		1.000 6 109467654 stop gained G/A;T snv 1.2E-05
CUI: C3279748
Disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 		0.700 0
dbSNP: rs1046943
rs1046943 		1.000 0.040 6 109462738 3 prime UTR variant A/G snv 0.52
CUI: C0853193
Disease: Bipolar I disorder
Bipolar I disorder 		Mental Disorders 0.010 1.000 1 2012 2012