KIF1A, kinesin family member 1A, 547

N. diseases: 187; N. variants: 45
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: rs387906799
rs387906799
0.742 0.200 2 240788118 missense variant G/A snv
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy
Nervous System Diseases 0.700 0
dbSNP: rs672601362
rs672601362
0.851 0.080 2 240789246 missense variant G/A snv
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy
Nervous System Diseases 0.700 0
dbSNP: rs672601363
rs672601363
0.851 0.080 2 240788109 missense variant C/T snv
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy
Nervous System Diseases 0.700 0
dbSNP: rs672601364
rs672601364
0.925 0.040 2 240786513 missense variant C/A snv
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy
Nervous System Diseases 0.700 0
dbSNP: rs672601365
rs672601365
0.925 0.040 2 240786444 missense variant G/A snv 7.0E-06
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy
Nervous System Diseases 0.700 0
dbSNP: rs672601366
rs672601366
0.851 0.120 2 240786339 missense variant C/G snv
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy
Nervous System Diseases 0.700 0
dbSNP: rs672601367
rs672601367
0.851 0.080 2 240785066 missense variant T/G snv
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy
Nervous System Diseases 0.700 0
dbSNP: rs672601369
rs672601369
0.790 0.120 2 240783780 missense variant C/T snv
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy
Nervous System Diseases 0.700 0