POLR3B, RNA polymerase III subunit B, 55703

N. diseases: 71; N. variants: 19
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM ×
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: rs1442212683
rs1442212683 		1.000 12 106430333 missense variant C/T snv 7.0E-06
CUI: C3280644
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 		0.700 1.000 3 2011 2013
dbSNP: rs138249161
rs138249161 		0.827 0.240 12 106432421 missense variant T/A snv 2.7E-04 3.0E-04
CUI: C3280644
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 		0.700 0
dbSNP: rs267608683
rs267608683 		1.000 12 106432361 missense variant C/A snv
CUI: C3280644
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 		0.700 0
dbSNP: rs267608684
rs267608684 		1.000 12 106432385 frameshift variant T/- delins 2.1E-05
CUI: C3280644
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 		0.700 0
dbSNP: rs267608685
rs267608685 		1.000 12 106463593 stop gained A/T snv
CUI: C3280644
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 		0.700 0
dbSNP: rs267608686
rs267608686 		1.000 12 106437679 splice acceptor variant A/C;G snv 4.0E-06; 1.2E-05
CUI: C3280644
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 		0.700 0
dbSNP: rs267608687
rs267608687 		1.000 12 106457147 missense variant G/A snv 8.4E-05 7.0E-05
CUI: C3280644
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 		0.700 0
dbSNP: rs267608688
rs267608688 		1.000 12 106433739 stop gained C/A;T snv 8.0E-06
CUI: C3280644
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 		0.700 0
dbSNP: rs267608689
rs267608689 		1.000 12 106496119 missense variant C/G;T snv
CUI: C3280644
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 		0.700 0
dbSNP: rs751459271
rs751459271 		1.000 12 106504155 missense variant A/G snv 3.6E-05 7.0E-06
CUI: C3280644
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 		0.700 0
dbSNP: rs753943393
rs753943393 		1.000 12 106459369 splice donor variant G/A snv 4.8E-05 1.4E-05
CUI: C3280644
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 		0.700 0
dbSNP: rs774526181
rs774526181 		0.882 0.200 12 106427360 splice donor variant T/C snv 8.0E-06 2.1E-05
CUI: C3280644
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 		0.700 0
dbSNP: rs775141057
rs775141057 		0.882 0.120 12 106496115 missense variant C/A;T snv 4.0E-06 2.1E-05
CUI: C3280644
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 		0.700 0
dbSNP: rs797045895
rs797045895 		1.000 12 106432463 inframe deletion CTT/- delins
CUI: C3280644
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 		0.700 0