Source: UNIPROT

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: rs431905508
rs431905508
NEK1
1.000 0.080 4 169589478 missense variant C/T snv
CUI: C0024507
Disease: Majewski Syndrome
Majewski Syndrome 		0.800 0
dbSNP: rs200161705
rs200161705
NEK1
0.882 0.160 4 169585374 missense variant C/A;T snv 6.0E-05; 2.3E-03
CUI: C4693523
Disease: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24
AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24 		0.700 0