CALD1, caldesmon 1, 800

N. diseases: 94; N. variants: 6
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: rs13247106
rs13247106 		7 134874629 intron variant A/C;G snv
CUI: C4317009
Disease: Diverticular Diseases
Diverticular Diseases 		Digestive System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1869260
rs1869260 		1.000 0.040 7 134869143 intron variant G/A snv 0.22
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs3800748
rs3800748 		1.000 0.040 7 134865368 intron variant C/T snv 0.21
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs4732064
rs4732064 		1.000 0.040 7 134867395 intron variant T/G snv 0.78
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs3807337
rs3807337 		1.000 0.120 7 134779071 intron variant A/G;T snv
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs756573441
rs756573441 		1.000 0.120 7 134933359 missense variant A/G;T snv 4.2E-06
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2005 2005