Source: ALL

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: rs131746
rs131746
CHKB ; CHKB-DT
22 50587166 intron variant C/G snv 0.43
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs131748
rs131748
CHKB ; CHKB-DT
22 50586408 intron variant G/A;C snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs131749
rs131749
CHKB ; CHKB-DT
22 50586195 intron variant T/C snv 0.72
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs131750
rs131750
CHKB ; CHKB-DT
22 50585879 non coding transcript exon variant T/C snv 0.38
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs140513
rs140513
CHKB ; CHKB-DT
22 50589826 intron variant C/G;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs1333100080
rs1333100080
CHKB ; CHKB-CPT1B ; CHKB-DT
1.000 0.120 22 50581796 stop gained G/A snv 4.0E-06
CUI: C1865233
Disease: Muscular Dystrophy, Congenital, Megaconial Type
Muscular Dystrophy, Congenital, Megaconial Type 		0.700 0
dbSNP: rs1569054086
rs1569054086
CHKB ; CHKB-CPT1B ; CHKB-DT
1.000 0.120 22 50581814 stop gained C/A snv
CUI: C1865233
Disease: Muscular Dystrophy, Congenital, Megaconial Type
Muscular Dystrophy, Congenital, Megaconial Type 		0.700 0
dbSNP: rs1569054508
rs1569054508
CHKB ; CHKB-CPT1B ; CHKB-DT
1.000 0.120 22 50582314 frameshift variant G/- delins
CUI: C1865233
Disease: Muscular Dystrophy, Congenital, Megaconial Type
Muscular Dystrophy, Congenital, Megaconial Type 		0.700 0
dbSNP: rs387907068
rs387907068
CHKB ; CHKB-CPT1B ; CHKB-DT
1.000 0.120 22 50582666 stop gained G/A;T snv
CUI: C1865233
Disease: Muscular Dystrophy, Congenital, Megaconial Type
Muscular Dystrophy, Congenital, Megaconial Type 		0.700 0
dbSNP: rs786205117
rs786205117
CHKB ; CHKB-CPT1B ; CHKB-DT
1.000 0.120 22 50581542 frameshift variant -/A delins
CUI: C1865233
Disease: Muscular Dystrophy, Congenital, Megaconial Type
Muscular Dystrophy, Congenital, Megaconial Type 		0.700 0
dbSNP: rs146163970
rs146163970
CHKB ; CHKB-CPT1B ; CHKB-DT
1.000 0.120 22 50582319 missense variant G/A snv 3.0E-04 2.4E-04
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		0.010 1.000 1 2016 2016