Disease: Charcot-Marie-Tooth Disease, Recessive Intermediate A ×
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: rs28937906
rs28937906 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 4 2002 2005
dbSNP: rs104894077
rs104894077 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs104894080
rs104894080 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1554548327
rs1554548327 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs397515432
rs397515432 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs745663149
rs745663149 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs770501034
rs770501034 		1.000 0.080 8 74364059 stop gained C/T snv 1.2E-05 1.4E-05
CUI: C1842197
Disease: Charcot-Marie-Tooth Disease, Recessive Intermediate A
Charcot-Marie-Tooth Disease, Recessive Intermediate A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0