Source: CURATED

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: rs10504576
rs10504576
GDAP1
8 74354444 intron variant A/G snv 0.47
CUI: C0162701
Disease: Polysomnography
Polysomnography 		0.700 1.000 1 2007 2007
dbSNP: rs139808557
rs139808557
GDAP1
1.000 0.080 8 74360225 missense variant G/A snv 1.1E-04 1.7E-04
CUI: C1859198
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder) 		0.700 1.000 1 2015 2015
dbSNP: rs28493987
rs28493987
GDAP1
1.000 0.040 8 74428862 intron variant G/A;C;T snv
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2015 2015
dbSNP: rs28493987
rs28493987
GDAP1
1.000 0.040 8 74428862 intron variant G/A;C;T snv
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.700 1.000 1 2015 2015
dbSNP: rs4469448
rs4469448
GDAP1
8 74382875 intron variant G/C;T snv
CUI: C0162701
Disease: Polysomnography
Polysomnography 		0.700 1.000 1 2007 2007
dbSNP: rs6996971
rs6996971
GDAP1
8 74380257 intron variant C/T snv 0.51
CUI: C0162701
Disease: Polysomnography
Polysomnography 		0.700 1.000 1 2007 2007
dbSNP: rs756461496
rs756461496
GDAP1
0.925 0.080 8 74364305 frameshift variant -/T delins 4.0E-06 2.1E-05
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 1.000 1 2014 2014
dbSNP: rs886041386
rs886041386
GDAP1
1.000 0.080 8 74361900 frameshift variant A/- del 4.0E-06 2.8E-05
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 1.000 1 2014 2014
dbSNP: rs104894075
rs104894075
GDAP1
0.851 0.080 8 74362940 stop gained C/G snv 4.0E-06 2.1E-05
CUI: C1842983
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K 		0.700 0
dbSNP: rs104894075
rs104894075
GDAP1
0.851 0.080 8 74362940 stop gained C/G snv 4.0E-06 2.1E-05
CUI: C1843183
Disease: Charcot-Marie-Tooth disease, Type 4A, axonal form
Charcot-Marie-Tooth disease, Type 4A, axonal form 		0.700 0
dbSNP: rs104894077
rs104894077
GDAP1
0.790 0.080 8 74361886 stop gained C/T snv 7.6E-05 1.5E-04
CUI: C4016973
Disease: NEUROPATHY, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE
NEUROPATHY, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs104894077
rs104894077
GDAP1
0.790 0.080 8 74361886 stop gained C/T snv 7.6E-05 1.5E-04
CUI: C1843183
Disease: Charcot-Marie-Tooth disease, Type 4A, axonal form
Charcot-Marie-Tooth disease, Type 4A, axonal form 		0.700 0
dbSNP: rs104894077
rs104894077
GDAP1
0.790 0.080 8 74361886 stop gained C/T snv 7.6E-05 1.5E-04
CUI: C1842197
Disease: Charcot-Marie-Tooth Disease, Recessive Intermediate A
Charcot-Marie-Tooth Disease, Recessive Intermediate A 		0.700 0
dbSNP: rs104894077
rs104894077
GDAP1
0.790 0.080 8 74361886 stop gained C/T snv 7.6E-05 1.5E-04
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		0.700 0
dbSNP: rs104894077
rs104894077
GDAP1
0.790 0.080 8 74361886 stop gained C/T snv 7.6E-05 1.5E-04
CUI: C1842983
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K 		0.700 0
dbSNP: rs104894078
rs104894078
GDAP1
0.851 0.080 8 74360184 missense variant C/T snv 7.0E-06
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		0.700 0
dbSNP: rs104894079
rs104894079
GDAP1
0.925 0.080 8 74360295 missense variant A/C snv
CUI: C1842983
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K 		0.700 0
dbSNP: rs104894080
rs104894080
GDAP1
0.790 0.120 8 74364005 missense variant C/T snv 3.2E-05 4.2E-05
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.700 0
dbSNP: rs104894080
rs104894080
GDAP1
0.790 0.120 8 74364005 missense variant C/T snv 3.2E-05 4.2E-05
CUI: C1842983
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K 		0.700 0
dbSNP: rs104894080
rs104894080
GDAP1
0.790 0.120 8 74364005 missense variant C/T snv 3.2E-05 4.2E-05
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy 		0.700 0
dbSNP: rs104894080
rs104894080
GDAP1
0.790 0.120 8 74364005 missense variant C/T snv 3.2E-05 4.2E-05
CUI: C1842197
Disease: Charcot-Marie-Tooth Disease, Recessive Intermediate A
Charcot-Marie-Tooth Disease, Recessive Intermediate A 		0.700 0
dbSNP: rs104894080
rs104894080
GDAP1
0.790 0.120 8 74364005 missense variant C/T snv 3.2E-05 4.2E-05
CUI: C1314665
Disease: Serum alkaline phosphatase raised
Serum alkaline phosphatase raised 		0.700 0
dbSNP: rs104894080
rs104894080
GDAP1
0.790 0.120 8 74364005 missense variant C/T snv 3.2E-05 4.2E-05
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.700 0
dbSNP: rs104894080
rs104894080
GDAP1
0.790 0.120 8 74364005 missense variant C/T snv 3.2E-05 4.2E-05
CUI: C0151313
Disease: Sensory neuropathy
Sensory neuropathy 		0.700 0
dbSNP: rs1060500978
rs1060500978
GDAP1
1.000 0.080 8 74364073 frameshift variant G/- delins
CUI: C1859198
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder) 		0.700 0