Source: UNIPROT

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: rs797045018
rs797045018
THOC2
1.000 X 123665715 missense variant A/G snv
CUI: C0796218
Disease: MENTAL RETARDATION, X-LINKED 12
MENTAL RETARDATION, X-LINKED 12 		0.800 0
dbSNP: rs797045019
rs797045019
THOC2
1.000 X 123668239 missense variant G/A snv
CUI: C0796218
Disease: MENTAL RETARDATION, X-LINKED 12
MENTAL RETARDATION, X-LINKED 12 		0.800 0
dbSNP: rs797045020
rs797045020
THOC2
1.000 X 123625935 missense variant A/G snv
CUI: C0796218
Disease: MENTAL RETARDATION, X-LINKED 12
MENTAL RETARDATION, X-LINKED 12 		0.800 0
dbSNP: rs797045021
rs797045021
THOC2
1.000 X 123631770 missense variant A/G snv
CUI: C0796218
Disease: MENTAL RETARDATION, X-LINKED 12
MENTAL RETARDATION, X-LINKED 12 		0.800 0