Source: ALL

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: rs104894080
rs104894080
GDAP1
0.790 0.120 8 74364005 missense variant C/T snv 3.2E-05 4.2E-05
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy 		0.700 0
dbSNP: rs202219507
rs202219507
ALS2
1.000 0.040 2 201733377 missense variant T/A snv 4.9E-04 5.9E-04
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy 		0.700 0
dbSNP: rs387906799
rs387906799
KIF1A
0.742 0.200 2 240788118 missense variant G/A snv
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy 		0.700 0
dbSNP: rs672601362
rs672601362
KIF1A
0.851 0.080 2 240789246 missense variant G/A snv
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy 		0.700 0
dbSNP: rs672601363
rs672601363
KIF1A
0.851 0.080 2 240788109 missense variant C/T snv
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy 		0.700 0
dbSNP: rs672601364
rs672601364
KIF1A
0.925 0.040 2 240786513 missense variant C/A snv
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy 		0.700 0
dbSNP: rs672601365
rs672601365
KIF1A
0.925 0.040 2 240786444 missense variant G/A snv 7.0E-06
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy 		0.700 0
dbSNP: rs672601366
rs672601366
KIF1A
0.851 0.120 2 240786339 missense variant C/G snv
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy 		0.700 0
dbSNP: rs672601367
rs672601367
KIF1A
0.851 0.080 2 240785066 missense variant T/G snv
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy 		0.700 0
dbSNP: rs672601369
rs672601369
KIF1A
0.790 0.120 2 240783780 missense variant C/T snv
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy 		0.700 0
dbSNP: rs761291489
rs761291489
ALS2
1.000 0.040 2 201711091 missense variant C/T snv 1.6E-05 1.4E-05
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy 		0.700 0
dbSNP: rs773159585
rs773159585
MFN2
0.882 0.080 1 11998877 missense variant C/T snv 8.0E-06
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy 		0.700 0