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: 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: rs121908113
rs121908113
GDAP1
0.925 0.080 8 74363011 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: rs267606842
rs267606842
GDAP1
1.000 0.080 8 74363037 missense variant A/T 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: 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: 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: 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: rs28937906
rs28937906
GDAP1
1.000 0.080 8 74364134 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C1842197
Disease: Charcot-Marie-Tooth Disease, Recessive Intermediate A
Charcot-Marie-Tooth Disease, Recessive Intermediate A 		0.800 1.000 4 2002 2005
dbSNP: rs16938910
rs16938910
GDAP1
1.000 0.120 8 74461713 intron variant C/T snv 5.4E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.800 1.000 1 2013 2013
dbSNP: rs4471028
rs4471028
GDAP1
8 74382740 intron variant T/G snv 0.36
CUI: C0455829
Disease: Waist Circumference
Waist Circumference 		0.800 1.000 1 2007 2007
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: C1859198
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder) 		0.700 1.000 9 2003 2012
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: rs1476856429
rs1476856429
GDAP1
0.882 0.080 8 74364057 missense variant A/G snv 1.2E-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 5 2004 2018
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: rs538389475
rs538389475
GDAP1
1.000 0.080 8 74364218 missense variant C/T snv 1.2E-05 3.5E-05
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: 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: 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: rs104894080
rs104894080
GDAP1
0.790 0.120 8 74364005 missense variant C/T snv 3.2E-05 4.2E-05
CUI: C1859198
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder) 		0.700 1.000 3 2003 2009
dbSNP: rs1554547986
rs1554547986
GDAP1
1.000 0.080 8 74361970 stop gained C/T snv
CUI: C1859198
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder) 		0.700 1.000 3 2007 2013
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: 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: rs864622501
rs864622501
GDAP1
1.000 0.080 8 74361979 splice donor 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 1.000 3 2002 2010
dbSNP: rs104894075
rs104894075
GDAP1
0.851 0.080 8 74362940 stop gained C/G snv 4.0E-06 2.1E-05
CUI: C1859198
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder) 		0.700 1.000 2 2002 2011
dbSNP: rs1221804567
rs1221804567
GDAP1
1.000 0.080 8 74361900 frameshift variant AG/- delins
CUI: C1859198
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder) 		0.700 1.000 2 2002 2010
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