Source: CLINVAR

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: rs672601368
rs672601368
KIF1A
0.827 0.160 2 240785062 missense variant C/G;T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 1.000 1 2016 2016