Source: BEFREE

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: rs1052108705
rs1052108705
POU5F1 ; TCF19
6 31165217 missense variant C/T snv 4.1E-06 2.1E-05
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2019 2019
dbSNP: rs1052108705
rs1052108705
POU5F1 ; TCF19
6 31165217 missense variant C/T snv 4.1E-06 2.1E-05
CUI: C0302142
Disease: Deformity
Deformity 		0.010 1.000 1 2019 2019
dbSNP: rs1052108705
rs1052108705
POU5F1 ; TCF19
6 31165217 missense variant C/T snv 4.1E-06 2.1E-05
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2019 2019