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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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
dbSNP: rs1060500979
rs1060500979
GDAP1
1.000 0.080 8 74361976 frameshift variant A/- delins
CUI: C1859198
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder) 		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: 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: rs121908115
rs121908115
GDAP1
1.000 0.080 8 74364009 missense variant G/A;C snv 4.0E-06
CUI: C1842983
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K 		0.700 0
dbSNP: rs1554548327
rs1554548327
GDAP1
1.000 0.080 8 74363982 splice region variant AAGAGGGCCAGCAACCTTGGCTCTGCGGTGAATCCTTCACCCTGGCAGACGTCTCACTCGCTGTCACATTGCATCGACTGAAGTTCCTGGGGTTTGCAAGGAGAAACTGGGGAAACGGAAAGCGACCAAACTTGGAAACCTATTACGAGCGTGTCTTGAAGAGAAAAACATTTAACAAGGTTTTAGGACATGTCAACAATATATTAATCTCTGCAGTGCTGCCAACAGCATTCCGGGTGGCCAAGAAAAGGGCCCCAAAAGTTCTTGGCACGACCCTTGTGGTTGGTTTGCTTGCAGGAGTGGGATATTTTGCTTTTATGCTTTTCAGAAAGAGGCTTGGCAGCATGATATTAGCATTTAGACCCAGACCAAATTATTTCTAG/- delins
CUI: C1842197
Disease: Charcot-Marie-Tooth Disease, Recessive Intermediate A
Charcot-Marie-Tooth Disease, Recessive Intermediate A 		0.700 0
dbSNP: rs1554548334
rs1554548334
GDAP1
1.000 0.080 8 74363993 stop gained C/T snv
CUI: C1859198
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder) 		0.700 0
dbSNP: rs397515432
rs397515432
GDAP1
0.882 0.080 8 74364270 missense variant G/A snv
CUI: C1842197
Disease: Charcot-Marie-Tooth Disease, Recessive Intermediate A
Charcot-Marie-Tooth Disease, Recessive Intermediate A 		0.700 0
dbSNP: rs397515443
rs397515443
GDAP1
1.000 0.080 8 74364111 missense variant C/T snv
CUI: C1842983
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K 		0.700 0