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: rs672601370
rs672601370
KIF1A
0.790 0.160 2 240775863 missense variant G/A snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0