Source: CLINVAR

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: rs113994102
rs113994102
CTDP1
0.925 0.160 18 79710825 intron variant C/T snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 1.000 1 2005 2005
dbSNP: rs113994102
rs113994102
CTDP1
0.925 0.160 18 79710825 intron variant C/T snv
CUI: C1858726
Disease: Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Congenital Cataracts, Facial Dysmorphism, And Neuropathy 		0.700 0