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: rs1565569158
rs1565569158
ATN1
12 6939148 missense variant A/G snv
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		0.700 0
dbSNP: rs1565569158
rs1565569158
ATN1
12 6939148 missense variant A/G snv
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.700 0
dbSNP: rs1565569158
rs1565569158
ATN1
12 6939148 missense variant A/G snv
CUI: C0476273
Disease: Respiratory distress
Respiratory distress 		0.700 0
dbSNP: rs1565569158
rs1565569158
ATN1
12 6939148 missense variant A/G snv
CUI: C1857453
Disease: Renal hypoplasia/aplasia
Renal hypoplasia/aplasia 		0.700 0
dbSNP: rs1382597320
rs1382597320
ATN1
0.882 0.160 12 6934305 missense variant A/G snv 7.0E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.020 1.000 2 2008 2019
dbSNP: rs1208917022
rs1208917022
ATN1
1.000 0.040 12 6936663 missense variant A/G snv
CUI: C0004134
Disease: Ataxia
Ataxia 		0.010 1.000 1 2007 2007
dbSNP: rs1208917022
rs1208917022
ATN1
1.000 0.040 12 6936663 missense variant A/G snv
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		0.010 1.000 1 2007 2007
dbSNP: rs1208917022
rs1208917022
ATN1
1.000 0.040 12 6936663 missense variant A/G snv
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.010 1.000 1 2007 2007
dbSNP: rs1382597320
rs1382597320
ATN1
0.882 0.160 12 6934305 missense variant A/G snv 7.0E-06
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
Amyotrophic Lateral Sclerosis, Familial 		0.010 1.000 1 2008 2008
dbSNP: rs1382597320
rs1382597320
ATN1
0.882 0.160 12 6934305 missense variant A/G snv 7.0E-06
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.010 1.000 1 2008 2008
dbSNP: rs138470711
rs138470711
ATN1
1.000 0.080 12 6938982 missense variant G/A snv 2.0E-03 1.5E-03
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.010 1.000 1 2009 2009
dbSNP: rs148377687
rs148377687
ATN1
1.000 0.040 12 6939044 synonymous variant C/T snv 8.2E-06 2.1E-05
CUI: C0206634
Disease: Liposarcoma, Myxoid
Liposarcoma, Myxoid 		0.010 1.000 1 2016 2016
dbSNP: rs2239167
rs2239167
ATN1
0.925 0.200 12 6929604 intron variant G/A snv 5.5E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.010 1.000 1 2016 2016
dbSNP: rs2239167
rs2239167
ATN1
0.925 0.200 12 6929604 intron variant G/A snv 5.5E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2016 2016