Source: CURATED

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: rs398122394
rs398122394
ALG13
0.763 0.240 X 111685040 missense variant A/G snv
CUI: C0008489
Disease: Chorea
Chorea 		0.700 1.000 1 2013 2013
dbSNP: rs878853280
rs878853280
FRRS1L
1.000 9 109137529 stop gained G/A snv
CUI: C0008489
Disease: Chorea
Chorea 		0.700 1.000 1 2016 2016
dbSNP: rs878853281
rs878853281
FRRS1L
1.000 9 109141360 stop gained C/T snv 4.0E-06
CUI: C0008489
Disease: Chorea
Chorea 		0.700 1.000 1 2016 2016
dbSNP: rs878853282
rs878853282
FRRS1L
1.000 9 109141466 inframe deletion CCT/- delins 2.0E-05 2.7E-04
CUI: C0008489
Disease: Chorea
Chorea 		0.700 1.000 1 2016 2016
dbSNP: rs878853283
rs878853283
FRRS1L
1.000 9 109149675 frameshift variant -/T delins
CUI: C0008489
Disease: Chorea
Chorea 		0.700 1.000 1 2016 2016
dbSNP: rs1064794533
rs1064794533
GNAO1
0.882 0.080 16 56336846 missense variant G/A snv
CUI: C0008489
Disease: Chorea
Chorea 		0.700 0
dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C0008489
Disease: Chorea
Chorea 		0.700 0
dbSNP: rs147484110
rs147484110
CSTB
0.807 0.200 21 43774760 splice acceptor variant C/G snv 1.5E-04 2.7E-04
CUI: C0008489
Disease: Chorea
Chorea 		0.700 0
dbSNP: rs1554504684
rs1554504684
RHOBTB2
1.000 8 23007711 missense variant G/A snv
CUI: C0008489
Disease: Chorea
Chorea 		0.700 0
dbSNP: rs1555731819
rs1555731819
KMT2B
0.807 0.200 19 35729980 missense variant G/T snv
CUI: C0008489
Disease: Chorea
Chorea 		0.700 0
dbSNP: rs1562114190
rs1562114190
PHIP ; IRAK1BP1
0.790 0.160 6 78946061 frameshift variant A/- delins
CUI: C0008489
Disease: Chorea
Chorea 		0.700 0
dbSNP: rs1569525894
rs1569525894
SLC9A6
0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins
CUI: C0008489
Disease: Chorea
Chorea 		0.700 0
dbSNP: rs374052333
rs374052333
UBA5 ; NPHP3-ACAD11
0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06
CUI: C0008489
Disease: Chorea
Chorea 		0.700 0
dbSNP: rs796052505
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv
CUI: C0008489
Disease: Chorea
Chorea 		0.700 0