EVC, EvC ciliary complex subunit 1, 2121

N. diseases: 104; N. variants: 65
Disease: Single transverse palmar crease ×
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: rs121908425
rs121908425 		0.763 0.160 4 5748226 stop gained C/A;T snv 3.2E-05; 1.2E-05
CUI: C0424731
Disease: Single transverse palmar crease
Single transverse palmar crease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs753317536
rs753317536 		0.790 0.160 4 5719239 intron variant G/A;C snv 8.0E-06; 4.0E-06
CUI: C0424731
Disease: Single transverse palmar crease
Single transverse palmar crease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0