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: rs768746587
rs768746587
6 31165136 missense variant C/T snv 8.4E-06
CUI: C0302142
Disease: Deformity
Deformity
0.010 1.000 1 2019 2019
dbSNP: rs768746587
rs768746587
6 31165136 missense variant C/T snv 8.4E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.010 1.000 1 2019 2019
dbSNP: rs768746587
rs768746587
6 31165136 missense variant C/T snv 8.4E-06
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.010 1.000 1 2019 2019