SKIV2L, Ski2 like RNA helicase, 6499

N. diseases: 96; N. variants: 24
Disease: TRICHOHEPATOENTERIC SYNDROME 2 ×
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: rs281875237
rs281875237 		1.000 6 31962012 missense variant T/G snv
CUI: C3281289
Disease: TRICHOHEPATOENTERIC SYNDROME 2
TRICHOHEPATOENTERIC SYNDROME 2 		0.800 1.000 1 2012 2012
dbSNP: rs1562659544
rs1562659544 		1.000 6 31963721 frameshift variant -/A ins
CUI: C3281289
Disease: TRICHOHEPATOENTERIC SYNDROME 2
TRICHOHEPATOENTERIC SYNDROME 2 		0.700 0
dbSNP: rs751026211
rs751026211 		1.000 6 31961605 stop gained G/A snv 1.6E-05 2.1E-05
CUI: C3281289
Disease: TRICHOHEPATOENTERIC SYNDROME 2
TRICHOHEPATOENTERIC SYNDROME 2 		0.700 0
dbSNP: rs768503878
rs768503878 		1.000 6 31961354 stop gained C/T snv 1.9E-05 2.1E-05
CUI: C3281289
Disease: TRICHOHEPATOENTERIC SYNDROME 2
TRICHOHEPATOENTERIC SYNDROME 2 		0.700 0
dbSNP: rs781763471
rs781763471 		1.000 6 31967002 splice acceptor variant A/G snv 1.2E-05 7.0E-06
CUI: C3281289
Disease: TRICHOHEPATOENTERIC SYNDROME 2
TRICHOHEPATOENTERIC SYNDROME 2 		0.700 0