Source: ALL

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: rs1057524237
rs1057524237
COL11A1
0.851 0.280 1 102915626 splice region variant C/T snv
CUI: C1846423
Disease: Thick upper lip vermilion
Thick upper lip vermilion 		0.700 0
dbSNP: rs1568269273
rs1568269273
NFIX
0.807 0.320 19 13025433 missense variant G/A snv
CUI: C1846423
Disease: Thick upper lip vermilion
Thick upper lip vermilion 		0.700 0
dbSNP: rs312262690
rs312262690
ANTXR2
0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05
CUI: C1846423
Disease: Thick upper lip vermilion
Thick upper lip vermilion 		0.700 0
dbSNP: rs875989800
rs875989800
SMARCB1
0.732 0.480 22 23833670 inframe deletion AGA/- delins
CUI: C1846423
Disease: Thick upper lip vermilion
Thick upper lip vermilion 		0.700 0