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: rs1064797245
rs1064797245
0.776 0.280 19 41970540 missense variant G/A snv
CUI: C1832466
Disease: CAPOS syndrome
CAPOS syndrome
0.710 1.000 4 2015 2018
dbSNP: rs1064797245
rs1064797245
0.776 0.280 19 41970540 missense variant G/A snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.700 1.000 27 1988 2017
dbSNP: rs1064797245
rs1064797245
0.776 0.280 19 41970540 missense variant G/A snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12
0.700 1.000 6 2015 2018
dbSNP: rs1064797245
rs1064797245
0.776 0.280 19 41970540 missense variant G/A snv
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
0.700 1.000 4 2015 2017