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: rs121908112
rs121908112
GDAP1
1.000 0.080 8 74350553 stop gained G/A snv
CUI: C1859198
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder) 		0.700 0
dbSNP: rs761035569
rs761035569
GDAP1
1.000 0.080 8 74350573 stop gained C/T snv 4.0E-06
CUI: C1859198
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder) 		0.700 0
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: rs281865060
rs281865060
GDAP1
0.925 0.080 8 74360173 missense variant T/C;G snv 8.0E-06 7.0E-06
CUI: C1859198
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder) 		0.700 1.000 3 2004 2014
dbSNP: rs281865060
rs281865060
GDAP1
0.925 0.080 8 74360173 missense variant T/C;G snv 8.0E-06 7.0E-06
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		0.700 0
dbSNP: rs104894078
rs104894078
GDAP1
0.851 0.080 8 74360184 missense variant C/T snv 7.0E-06
CUI: C1859198
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder) 		0.700 1.000 9 2003 2012
dbSNP: rs104894078
rs104894078
GDAP1
0.851 0.080 8 74360184 missense variant C/T snv 7.0E-06
CUI: C1842983
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K 		0.800 1.000 5 2005 2017
dbSNP: rs104894078
rs104894078
GDAP1
0.851 0.080 8 74360184 missense variant C/T snv 7.0E-06
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.720 1.000 0 2010 2015
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: rs1174933176
rs1174933176
GDAP1
1.000 0.080 8 74360185 missense variant G/A snv 4.0E-06
CUI: C1859198
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder) 		0.700 0
dbSNP: rs397515442
rs397515442
GDAP1
0.882 0.080 8 74360194 missense variant A/G snv
CUI: C1859198
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder) 		0.700 1.000 5 2011 2017
dbSNP: rs397515442
rs397515442
GDAP1
0.882 0.080 8 74360194 missense variant A/G snv
CUI: C1842983
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K 		0.800 1.000 5 2005 2017
dbSNP: rs745663149
rs745663149
GDAP1
0.882 0.080 8 74360199 stop gained C/T snv 1.6E-05 7.0E-06
CUI: C1859198
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder) 		0.700 1.000 2 2009 2011
dbSNP: rs745663149
rs745663149
GDAP1
0.882 0.080 8 74360199 stop gained C/T snv 1.6E-05 7.0E-06
CUI: C1842983
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K 		0.700 0
dbSNP: rs745663149
rs745663149
GDAP1
0.882 0.080 8 74360199 stop gained C/T snv 1.6E-05 7.0E-06
CUI: C1842197
Disease: Charcot-Marie-Tooth Disease, Recessive Intermediate A
Charcot-Marie-Tooth Disease, Recessive Intermediate A 		0.700 0
dbSNP: rs879254005
rs879254005
GDAP1
1.000 0.080 8 74360202 missense variant G/A snv
CUI: C1842983
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K 		0.700 1.000 5 2005 2017
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: rs538412810
rs538412810
GDAP1
1.000 0.080 8 74360284 missense variant C/A;T snv 4.0E-06; 1.6E-05
CUI: C1859198
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder) 		0.700 1.000 3 2007 2017
dbSNP: rs397515441
rs397515441
GDAP1
1.000 0.080 8 74360293 missense variant C/G snv
CUI: C1842983
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K 		0.800 1.000 5 2005 2017
dbSNP: rs104894079
rs104894079
GDAP1
0.925 0.080 8 74360295 missense variant A/C snv
CUI: C1859198
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder) 		0.700 1.000 6 2005 2017
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: rs104894076
rs104894076
GDAP1
1.000 0.080 8 74360308 missense variant G/A;T snv 8.0E-06
CUI: C1859198
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder) 		0.800 1.000 4 2002 2005
dbSNP: rs104894077
rs104894077
GDAP1
0.790 0.080 8 74361886 stop gained C/T snv 7.6E-05 1.5E-04
CUI: C1859198
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder) 		0.700 1.000 3 2002 2011
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