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: rs1057520918
rs1057520918
0.790 0.160 19 13262780 missense variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 46 1988 2017
dbSNP: rs1057520918
rs1057520918
0.790 0.160 19 13262780 missense variant C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 1.000 46 1988 2017
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: rs1318353774
rs1318353774
1.000 19 13298827 stop gained G/A;C snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 46 1988 2017
dbSNP: rs1318353774
rs1318353774
1.000 19 13298827 stop gained G/A;C snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 46 1988 2017
dbSNP: rs1555756091
rs1555756091
1.000 19 13298847 frameshift variant -/A ins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 46 1988 2017
dbSNP: rs886037945
rs886037945
0.827 0.160 19 13303584 missense variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 46 1988 2017
dbSNP: rs886037945
rs886037945
0.827 0.160 19 13303584 missense variant C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 1.000 46 1988 2017
dbSNP: rs713993050
rs713993050
1.000 0.160 X 153725514 frameshift variant -/C delins
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
0.700 1.000 45 1981 2014
dbSNP: rs113994095
rs113994095
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
CUI: C0036572
Disease: Seizures
Seizures
0.700 1.000 44 2001 2018
dbSNP: rs113994095
rs113994095
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.700 1.000 41 2001 2018
dbSNP: rs113994095
rs113994095
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
CUI: C0240991
Disease: Ataxia, Sensory
Ataxia, Sensory
0.700 1.000 41 2001 2018
dbSNP: rs113994095
rs113994095
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
CUI: C0027066
Disease: Myoclonus
Myoclonus
0.700 1.000 41 2001 2018
dbSNP: rs113994095
rs113994095
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
CUI: C0700078
Disease: Decreased tendon reflex
Decreased tendon reflex
0.700 1.000 41 2001 2018
dbSNP: rs113994095
rs113994095
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
CUI: C1854489
Disease: Limb dysmetria
Limb dysmetria
0.700 1.000 41 2001 2018
dbSNP: rs113994095
rs113994095
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy
0.700 1.000 41 2001 2018
dbSNP: rs113994095
rs113994095
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
CUI: C1856691
Disease: Impaired proprioception
Impaired proprioception
0.700 1.000 41 2001 2018
dbSNP: rs113994095
rs113994095
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal
0.700 1.000 41 2001 2018
dbSNP: rs113994095
rs113994095
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
CUI: C0234378
Disease: Static Tremor
Static Tremor
0.700 1.000 41 2001 2018
dbSNP: rs113994095
rs113994095
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
CUI: C4551521
Disease: Kinetic tremor
Kinetic tremor
0.700 1.000 41 2001 2018
dbSNP: rs113994095
rs113994095
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
CUI: C1295585
Disease: Decreased vibratory sense
Decreased vibratory sense
0.700 1.000 41 2001 2018
dbSNP: rs28897756
rs28897756
0.752 0.440 13 32379913 splice region variant G/A;C;T snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 41 1997 2017
dbSNP: rs5742904
rs5742904
0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04
Familial hypercholesterolemia - homozygous
0.700 1.000 41 1989 2016
dbSNP: rs121908029
rs121908029
0.763 0.200 19 11105588 stop gained G/A;C;T snv 1.6E-05; 1.6E-05; 8.1E-06
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
0.700 1.000 40 1990 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