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: rs759125480
rs759125480
CEP120
0.827 0.160 5 123377409 stop gained G/A snv 1.6E-05
CUI: C0521525
Disease: Short neck
Short neck 		0.700 0