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: rs121913459
rs121913459 		0.672 0.160 9 130872896 missense variant C/T snv
CUI: C1709527
Disease: B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1
B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1 		0.100 0.882 17 2006 2019
dbSNP: rs121913448
rs121913448 		0.827 0.120 9 130862976 missense variant G/A snv
CUI: C1709527
Disease: B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1
B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1 		0.020 1.000 2 2003 2007
dbSNP: rs121913459
rs121913459 		0.672 0.160 9 130872896 missense variant C/T snv
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.020 1.000 2 2009 2010
dbSNP: rs387906517
rs387906517 		0.827 0.120 9 130862919 missense variant G/A snv
CUI: C1709527
Disease: B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1
B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1 		0.020 1.000 2 2003 2007
dbSNP: rs1060499547
rs1060499547 		1.000 9 130862890 missense variant A/G snv
CUI: C4023165
Disease: Abnormality of skeletal morphology
Abnormality of skeletal morphology 		0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548 		0.724 0.440 9 130872961 missense variant G/A snv
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548 		0.724 0.440 9 130872961 missense variant G/A snv
CUI: C4023165
Disease: Abnormality of skeletal morphology
Abnormality of skeletal morphology 		0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548 		0.724 0.440 9 130872961 missense variant G/A snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548 		0.724 0.440 9 130872961 missense variant G/A snv
CUI: C1856121
Disease: Broad eyebrow
Broad eyebrow 		0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548 		0.724 0.440 9 130872961 missense variant G/A snv
CUI: C0152421
Disease: Macrotia
Macrotia 		0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548 		0.724 0.440 9 130872961 missense variant G/A snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548 		0.724 0.440 9 130872961 missense variant G/A snv
CUI: C4317152
Disease: Dimple chin
Dimple chin 		0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548 		0.724 0.440 9 130872961 missense variant G/A snv
CUI: C0578038
Disease: Thin lips
Thin lips 		0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548 		0.724 0.440 9 130872961 missense variant G/A snv
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548 		0.724 0.440 9 130872961 missense variant G/A snv
CUI: C0423757
Disease: Thin skin
Thin skin 		0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548 		0.724 0.440 9 130872961 missense variant G/A snv
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548 		0.724 0.440 9 130872961 missense variant G/A snv
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 1.000 1 2017 2017
dbSNP: rs121913452
rs121913452 		0.851 0.080 9 130873027 missense variant T/A;C;G snv
CUI: C1709527
Disease: B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1
B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1 		0.010 1.000 1 2006 2006
dbSNP: rs121913459
rs121913459 		0.672 0.160 9 130872896 missense variant C/T snv
CUI: C4524071
Disease: Philadelphia positive acute lymphocytic leukaemia
Philadelphia positive acute lymphocytic leukaemia 		0.010 1.000 1 2012 2012
dbSNP: rs2313532
rs2313532 		9 130759934 intron variant G/A;C;T snv
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs2313532
rs2313532 		9 130759934 intron variant G/A;C;T snv
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: rs2855167
rs2855167 		9 130751251 intron variant T/C snv 0.53
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs1060499547
rs1060499547 		1.000 9 130862890 missense variant A/G snv
CUI: C4539857
Disease: CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME
CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME 		0.800 0
dbSNP: rs1060499548
rs1060499548 		0.724 0.440 9 130872961 missense variant G/A snv
CUI: C4539857
Disease: CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME
CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME 		0.800 0
dbSNP: rs121913459
rs121913459 		0.672 0.160 9 130872896 missense variant C/T snv
CUI: C4016396
Disease: LEUKEMIA, PHILADELPHIA CHROMOSOME-POSITIVE, RESISTANT TO IMATINIB
LEUKEMIA, PHILADELPHIA CHROMOSOME-POSITIVE, RESISTANT TO IMATINIB 		0.700 0