Source: ALL

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: rs1131691712
rs1131691712
19 13286952 frameshift variant -/A delins 4.2E-06
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.700 1.000 46 1988 2017
dbSNP: rs1554767313
rs1554767313
9 128203597 missense variant G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 1.000 38 1983 2017
dbSNP: rs781139634
rs781139634
2 25235768 stop gained G/A snv 7.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 1.000 36 1989 2018
dbSNP: rs781139634
rs781139634
2 25235768 stop gained G/A snv 7.0E-06
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.700 1.000 36 1989 2018
dbSNP: rs797044938
rs797044938
20 63442529 missense variant C/A;G snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 1.000 29 1980 2017
dbSNP: rs886039774
rs886039774
SON
21 33554777 frameshift variant GA/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 1.000 28 1988 2016
dbSNP: rs1554776842
rs1554776842
9 127660080 frameshift variant C/- delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.700 1.000 27 1998 2016
dbSNP: rs1554777375
rs1554777375
9 127665304 frameshift variant -/A delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.700 1.000 27 1998 2016
dbSNP: rs1554777375
rs1554777375
9 127665304 frameshift variant -/A delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 1.000 27 1998 2016
dbSNP: rs1554777919
rs1554777919
9 127669950 frameshift variant G/- delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.700 1.000 27 1998 2016
dbSNP: rs1554777919
rs1554777919
9 127669950 frameshift variant G/- delins
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.700 1.000 27 1998 2016
dbSNP: rs1554778941
rs1554778941
9 127682485 frameshift variant G/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 1.000 27 1998 2016
dbSNP: rs1554778941
rs1554778941
9 127682485 frameshift variant G/- delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.700 1.000 27 1998 2016
dbSNP: rs200891944
rs200891944
19 41981976 missense variant C/A;T snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.700 1.000 27 1988 2017
dbSNP: rs767199598
rs767199598
9 127682451 stop gained C/A;T snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.700 1.000 27 1998 2016
dbSNP: rs797044897
rs797044897
19 41984940 missense variant T/C snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 1.000 27 1988 2017
dbSNP: rs1555230924
rs1555230924
12 51806351 missense variant C/A snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.700 1.000 26 1995 2017
dbSNP: rs1555230924
rs1555230924
12 51806351 missense variant C/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 1.000 26 1995 2017
dbSNP: rs1554216308
rs1554216308
5 141626221 missense variant T/C snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.700 1.000 25 1999 2016
dbSNP: rs1554770046
rs1554770046
9 137162184 missense variant A/C snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 1.000 25 1983 2017
dbSNP: rs1555188379
rs1555188379
12 49032761 stop gained G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 25 1988 2017
dbSNP: rs1555205335
rs1555205335
12 109788404 missense variant A/C snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 24 1976 2017
dbSNP: rs1555605688
rs1555605688
17 59668852 missense variant C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 1.000 23 1976 2017
dbSNP: rs1555605688
rs1555605688
17 59668852 missense variant C/T snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.700 1.000 23 1976 2017
dbSNP: rs1064796453
rs1064796453
3 41235799 stop gained C/A;T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 1.000 22 1991 2017