KLC4, kinesin light chain 4, 89953

N. diseases: 31; N. variants: 8
Disease: Triangular face ×
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: rs1561875767
rs1561875767 		1.000 0.200 6 43041036 stop gained G/A snv
CUI: C1835884
Disease: Triangular face
Triangular face 		0.700 1.000 1 2019 2019
dbSNP: rs1561892336
rs1561892336 		0.807 0.200 6 43050050 stop gained C/T snv
CUI: C1835884
Disease: Triangular face
Triangular face 		0.700 1.000 1 2019 2019
dbSNP: rs1561898352
rs1561898352 		0.882 0.200 6 43052582 frameshift variant -/A delins
CUI: C1835884
Disease: Triangular face
Triangular face 		0.700 1.000 1 2019 2019