rs267608670, POLR3A

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
CUI: C2676243
Disease: Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
20 0.925 0.240 10 78007761 missense variant C/T snv 2.0E-05 1.4E-05 0.700 0
Leukodystrophy
CUI: C0023520
Disease: Leukodystrophy
27 0.925 0.240 10 78007761 missense variant C/T snv 2.0E-05 1.4E-05 0.010 1.000 1 2017 2017