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: rs28933383
rs28933383
KCNA1
0.851 0.120 12 4912055 missense variant C/A;G;T snv
CUI: C1719788
Disease: Episodic ataxia type 1
Episodic ataxia type 1 		0.810 0.938 16 1994 2010
dbSNP: rs104894352
rs104894352
KCNA1
1.000 0.080 12 4912601 missense variant T/C snv
CUI: C1719788
Disease: Episodic ataxia type 1
Episodic ataxia type 1 		0.810 1.000 13 1994 2012
dbSNP: rs104894348
rs104894348
KCNA1
1.000 0.080 12 4912093 missense variant C/A snv
CUI: C1719788
Disease: Episodic ataxia type 1
Episodic ataxia type 1 		0.800 1.000 12 1994 2010
dbSNP: rs104894349
rs104894349
KCNA1
1.000 0.080 12 4911898 missense variant G/T snv
CUI: C1719788
Disease: Episodic ataxia type 1
Episodic ataxia type 1 		0.800 1.000 12 1994 2010
dbSNP: rs104894353
rs104894353
KCNA1
1.000 0.080 12 4912353 missense variant G/C snv
CUI: C1719788
Disease: Episodic ataxia type 1
Episodic ataxia type 1 		0.800 1.000 12 1994 2010
dbSNP: rs104894354
rs104894354
KCNA1
1.000 0.080 12 4912054 missense variant A/G snv
CUI: C1719788
Disease: Episodic ataxia type 1
Episodic ataxia type 1 		0.800 1.000 12 1994 2010
dbSNP: rs104894355
rs104894355
KCNA1
1.000 0.080 12 4912588 missense variant G/A snv
CUI: C1719788
Disease: Episodic ataxia type 1
Episodic ataxia type 1 		0.800 1.000 12 1994 2010
dbSNP: rs104894356
rs104894356
KCNA1
1.000 0.080 12 4912123 missense variant T/A snv
CUI: C1719788
Disease: Episodic ataxia type 1
Episodic ataxia type 1 		0.800 1.000 12 1994 2010
dbSNP: rs104894357
rs104894357
KCNA1
1.000 0.080 12 4911929 missense variant T/G snv
CUI: C1719788
Disease: Episodic ataxia type 1
Episodic ataxia type 1 		0.800 1.000 12 1994 2010
dbSNP: rs104894358
rs104894358
KCNA1
0.882 0.120 12 4912627 stop gained C/G;T snv 4.0E-06
CUI: C1719788
Disease: Episodic ataxia type 1
Episodic ataxia type 1 		0.710 1.000 1 2010 2010
dbSNP: rs121918067
rs121918067
KCNA1
0.925 0.080 12 4912141 missense variant A/G snv
CUI: C1719788
Disease: Episodic ataxia type 1
Episodic ataxia type 1 		0.700 1.000 4 2000 2010
dbSNP: rs28933381
rs28933381
KCNA1
0.925 0.080 12 4912102 missense variant G/C snv
CUI: C1719788
Disease: Episodic ataxia type 1
Episodic ataxia type 1 		0.700 1.000 4 2000 2010
dbSNP: rs28933382
rs28933382
KCNA1
0.925 0.080 12 4912109 missense variant C/A;T snv 4.0E-06
CUI: C1719788
Disease: Episodic ataxia type 1
Episodic ataxia type 1 		0.700 1.000 4 2000 2010
dbSNP: rs1135401950
rs1135401950
KCNA1
1.000 0.080 12 4912561 missense variant G/T snv
CUI: C1719788
Disease: Episodic ataxia type 1
Episodic ataxia type 1 		0.700 0
dbSNP: rs121918067
rs121918067
KCNA1
0.925 0.080 12 4912141 missense variant A/G snv
CUI: C4016334
Disease: MYOKYMIA 1 WITH HYPOMAGNESEMIA
MYOKYMIA 1 WITH HYPOMAGNESEMIA 		0.700 0
dbSNP: rs267607195
rs267607195
KCNA1
1.000 0.080 12 4911908 missense variant T/A snv
CUI: C1719788
Disease: Episodic ataxia type 1
Episodic ataxia type 1 		0.700 0
dbSNP: rs28933381
rs28933381
KCNA1
0.925 0.080 12 4912102 missense variant G/C snv
CUI: C2674766
Disease: Myokymia 1
Myokymia 1 		0.700 0
dbSNP: rs28933382
rs28933382
KCNA1
0.925 0.080 12 4912109 missense variant C/A;T snv 4.0E-06
CUI: C2674766
Disease: Myokymia 1
Myokymia 1 		0.700 0
dbSNP: rs28933383
rs28933383
KCNA1
0.851 0.120 12 4912055 missense variant C/A;G;T snv
CUI: C2674766
Disease: Myokymia 1
Myokymia 1 		0.700 0
dbSNP: rs104894358
rs104894358
KCNA1
0.882 0.120 12 4912627 stop gained C/G;T snv 4.0E-06
CUI: C0009917
Disease: Contracture
Contracture 		0.010 < 0.001 1 2010 2010
dbSNP: rs104894358
rs104894358
KCNA1
0.882 0.120 12 4912627 stop gained C/G;T snv 4.0E-06
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.010 < 0.001 1 2010 2010
dbSNP: rs121918067
rs121918067
KCNA1
0.925 0.080 12 4912141 missense variant A/G snv
CUI: C4511005
Disease: Autosomal dominant primary hypomagnesemia with hypocalciuria
Autosomal dominant primary hypomagnesemia with hypocalciuria 		0.010 1.000 1 2009 2009
dbSNP: rs28933381
rs28933381
KCNA1
0.925 0.080 12 4912102 missense variant G/C snv
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.010 < 0.001 1 2013 2013
dbSNP: rs28933381
rs28933381
KCNA1
0.925 0.080 12 4912102 missense variant G/C snv
CUI: C0004134
Disease: Ataxia
Ataxia 		0.010 < 0.001 1 2013 2013
dbSNP: rs28933383
rs28933383
KCNA1
0.851 0.120 12 4912055 missense variant C/A;G;T snv
CUI: C0037763
Disease: Spasm
Spasm 		0.010 1.000 1 2016 2016