Disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB ×
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: rs200725073
rs200725073 		1.000 5 110761271 missense variant G/A;T snv 4.8E-05; 4.0E-06
CUI: C4225302
Disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB 		0.800 1.000 1 2015 2015
dbSNP: rs1057518748
rs1057518748 		1.000 5 110761530 missense variant A/T snv
CUI: C4225302
Disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB 		0.800 0
dbSNP: rs1057518750
rs1057518750 		1.000 5 110761523 missense variant C/T snv
CUI: C4225302
Disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB 		0.800 0
dbSNP: rs746681765
rs746681765 		0.882 0.080 5 110761543 missense variant C/A;T snv 2.8E-05
CUI: C4225302
Disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB 		0.800 0
dbSNP: rs1057518749
rs1057518749 		1.000 5 110761404 frameshift variant -/TTAC delins
CUI: C4225302
Disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB 		0.700 0
dbSNP: rs1057519294
rs1057519294 		1.000 5 110761547 missense variant T/C snv
CUI: C4225302
Disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB 		0.700 0
dbSNP: rs1057519295
rs1057519295 		1.000 5 110746297 missense variant T/G snv
CUI: C4225302
Disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB 		0.700 0
dbSNP: rs1057519296
rs1057519296 		1.000 5 110746309 missense variant C/T snv 7.0E-06
CUI: C4225302
Disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB 		0.700 0
dbSNP: rs1057519416
rs1057519416 		1.000 5 110739284 frameshift variant -/C delins
CUI: C4225302
Disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB 		0.700 0
dbSNP: rs1184021143
rs1184021143 		0.925 0.080 5 110761295 missense variant G/A snv 4.0E-06
CUI: C4225302
Disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB 		0.700 0
dbSNP: rs1554093168
rs1554093168 		1.000 5 110761261 stop gained A/T snv
CUI: C4225302
Disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB 		0.700 0