DBNL, drebrin like, 28988

N. diseases: 30; 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: rs77938727
rs77938727 		1.000 0.160 7 44065240 missense variant C/T snv 1.3E-03 2.9E-04
CUI: C0268149
Disease: Glycogen storage disease type X
Glycogen storage disease type X 		Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases 0.810 1.000 1 1999 1999
dbSNP: rs104894030
rs104894030 		1.000 0.160 7 44065264 missense variant T/G snv 3.6E-05 7.0E-05
CUI: C0268149
Disease: Glycogen storage disease type X
Glycogen storage disease type X 		Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases 0.800 1.000 2 1993 1999
dbSNP: rs10250779
rs10250779 		1.000 0.160 7 44065297 stop gained C/A;G;T snv 8.0E-06; 5.3E-04
CUI: C0268149
Disease: Glycogen storage disease type X
Glycogen storage disease type X 		Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 1.000 2 1993 2016
dbSNP: rs104894034
rs104894034 		1.000 0.160 7 44065262 missense variant G/A snv 2.0E-05 7.0E-06
CUI: C0268149
Disease: Glycogen storage disease type X
Glycogen storage disease type X 		Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 1.000 2 1993 1999
dbSNP: rs750422335
rs750422335 		7 44062889 missense variant C/T snv 4.0E-06
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis 		Musculoskeletal Diseases 0.700 1.000 1 2017 2017
dbSNP: rs747947171
rs747947171 		1.000 0.160 7 44064894 frameshift variant C/- delins 4.1E-05 4.2E-05
CUI: C0268149
Disease: Glycogen storage disease type X
Glycogen storage disease type X 		Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 0
dbSNP: rs77938727
rs77938727 		1.000 0.160 7 44065240 missense variant C/T snv 1.3E-03 2.9E-04
CUI: C0026821
Disease: Muscle Cramp
Muscle Cramp 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 1999 1999