CAPN3, calpain 3, 825

N. diseases: 137; N. variants: 155
Disease: Difficulty walking ×
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: rs201892814
rs201892814 		1.000 0.040 15 42403721 intron variant C/G snv 3.1E-03; 2.4E-05 3.1E-03
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs758058910
rs758058910 		1.000 0.120 15 42360096 missense variant C/A;T snv 4.0E-06 1.4E-05
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs778768583
rs778768583 		0.851 0.120 15 42410958 missense variant G/C snv 8.0E-06
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs80338800
rs80338800 		0.827 0.120 15 42387803 frameshift variant A/- delins
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs886042108
rs886042108 		0.851 0.120 15 42409930 splice acceptor variant G/C;T snv
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		Pathological Conditions, Signs and Symptoms 0.700 0