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+ Genes 17

+ Genes associated with diseases 14

Genes at Omim

ATP2B3, CACNA1A, CACNA1G, EXOSC3, GRID2, ITPR1, KCNC3, PIGT, PRKCG, SACS, SLC9A1, SPTBN2, TSEN54, WDR73,
ATP2B3 ?Spinocerebellar ataxia, X-linked 1, 302500 (3)
CACNA1A Epileptic encephalopathy, early infantile, 42, 617106 (3)
Episodic ataxia, type 2, 108500 (3)
Migraine, familial hemiplegic, 1, 141500 (3)
Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3)
Spinocerebellar ataxia 6, 183086 (3)
CACNA1G Spinocerebellar ataxia 42, 616795 (3)
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, 618087 (3)
EXOSC3 Pontocerebellar hypoplasia, type 1B, 614678 (3)
GRID2 Spinocerebellar ataxia, autosomal recessive 18, 616204 (3)
ITPR1 Gillespie syndrome, 206700 (3)
Spinocerebellar ataxia 15, 606658 (3)
Spinocerebellar ataxia 29, congenital nonprogressive, 117360 (3)
KCNC3 Spinocerebellar ataxia 13, 605259 (3)
PIGT Multiple congenital anomalies-hypotonia-seizures syndrome 3, 615398 (3)
?Paroxysmal nocturnal hemoglobinuria 2, 615399 (3)
PRKCG Spinocerebellar ataxia 14, 605361 (3)
SACS Spastic ataxia, Charlevoix-Saguenay type, 270550 (3)
SLC9A1 ?Lichtenstein-Knorr syndrome, 616291 (3)
SPTBN2 Spinocerebellar ataxia 5, 600224 (3)
Spinocerebellar ataxia, autosomal recessive 14, 615386 (3)
TSEN54 Pontocerebellar hypoplasia type 2A, 277470 (3)
Pontocerebellar hypoplasia type 4, 225753 (3)
?Pontocerebellar hypoplasia type 5, 610204 (3)
WDR73 Galloway-Mowat syndrome 1, 251300 (3)

Genes at Clinical Genomics Database

ATP2B3, CACNA1A, CACNA1G, EXOSC3, GRID2, ITPR1, KCNC3, PIGT, PRKCG, SACS, SLC9A1, SPTBN2, TSEN54, WDR73,
ATP2B3 Spinocerebellar ataxia, X-linked 1
CACNA1A Episodic ataxia, type 2
Migraine, familial hemiplegic 1
CACNA1G Spinocerebellar ataxia 42
EXOSC3 Pontocerebellar hypoplasia type 1B
GRID2 Spinocerebellar ataxia, autosomal recessive 18
ITPR1 Spinocerebellar ataxia 15
Spinocerebellar ataxia 29
KCNC3 Spinocerebellar ataxia 13
PIGT Multiple congenital anomalies-hypotonia-seizures syndrome 3
PRKCG Spinocerebellar ataxia 14
SACS Spastic ataxia, Charlevoix-Saguenay type
SLC9A1 Spinocerebellar ataxia, autosomal recessive 19 (Lichtenstein-Knorr syndrome)
SPTBN2 Spinocerebellar ataxia 5, autosomal dominant
Spinocerebellar ataxia 14, autosomal recessive
TSEN54 Pontocerebellar hypoplasia, type 2A
Pontocerebellar hypoplasia type 4
Pontocerebellar hypoplasia type 5
WDR73 Galloway-Mowat syndrome

Genes at HGMD

Summary

Number of Variants: 50
Number of Genes: 17

Export to: CSV
  • Page 1 of 1

ATP2B3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 2-ac-cap17_s1 genome X rs3020949
dbSNP Clinvar 		152815089 10219.61 A G PASS 1/1 358 SYNONYMOUS_CODING LOW None 0.98543 0.98540 0.01051 None None None None None None ATP2B3|0.203946244|36.25%

CACNA1A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 2-ac-cap17_s1 genome 19 rs2248069
dbSNP Clinvar 		13445208 17517.79 C T PASS 1/1 656 SYNONYMOUS_CODING LOW None 0.64117 0.64120 0.35631 None None None None None None None

CACNA1G
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 2-ac-cap17_s1 genome 17 rs12449998
dbSNP Clinvar 		48653354 21012.89 C A PASS 1/1 750 SYNONYMOUS_CODING LOW None 0.52396 0.52400 0.37423 None None None None None None CACNA1G|0.364374297|23.14%

EXOSC3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 2-ac-cap17_s1 genome 9 rs7158
dbSNP Clinvar 		37782111 21378.1 C T PASS 1/1 772 SYNONYMOUS_CODING LOW None 0.56410 0.56410 0.47086 None None None None None None EXOSC3|0.277073814|29.34%

GRID2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 2-ac-cap17_s1 genome 4 rs1385405
dbSNP Clinvar 		94316763 16594.69 T G PASS 1/1 605 SYNONYMOUS_CODING LOW None 0.75599 0.75600 0.27115 None None None None None None None

GRID2IP
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 2-ac-cap17_s1 genome 7 rs6463571
dbSNP Clinvar 		6590693 7628.02 G A PASS 1/1 256 SYNONYMOUS_CODING LOW None 0.77137 0.77140 None None None None None None GRID2IP|0.055491049|61.06%
View 2-ac-cap17_s1 genome 7 rs4724818
dbSNP Clinvar 		6591041 15938.52 C G PASS 1/1 604 SYNONYMOUS_CODING LOW None 0.30312 0.30310 None None None None None None GRID2IP|0.055491049|61.06%
View 2-ac-cap17_s1 genome 7 rs6463568
dbSNP Clinvar 		6537821 18903.81 G C PASS 1/1 697 SYNONYMOUS_CODING LOW None 0.75599 0.75600 0.10053 None None None None None None GRID2IP|0.055491049|61.06%

INPP4A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 2-ac-cap17_s1 genome 2 rs2230388
dbSNP Clinvar 		99193496 20243.75 C T PASS 1/1 728 SYNONYMOUS_CODING LOW None 0.25639 0.25640 0.22870 None None None None None None None
View 2-ac-cap17_s1 genome 2 rs2278211
dbSNP Clinvar 		99149946 18228.94 G A PASS 1/1 674 SYNONYMOUS_CODING LOW None 0.23043 0.23040 0.21308 None None None None None None None

ITPR1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 2-ac-cap17_s1 genome 3 rs6442905
dbSNP Clinvar 		4817057 21138.95 T C PASS 1/1 757 SYNONYMOUS_CODING LOW None 0.96266 0.96270 0.03471 None None None None None None None
View 2-ac-cap17_s1 genome 3 rs2306875
dbSNP Clinvar 		4712413 19292.83 G A PASS 1/1 692 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.61402 0.61400 0.31915 None None None None None None None

KCNC3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 2-ac-cap17_s1 genome 19 rs375912738
dbSNP Clinvar 		50832152 1505.92 T C PASS 1/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.45 0.00 None None None None None None KCNC3|0.018434583|75%

PIGT
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 2-ac-cap17_s1 genome 20 rs13217
dbSNP Clinvar 		44052992 22892.39 G A PASS 1/1 821 SYNONYMOUS_CODING LOW None 0.27456 0.27460 0.39067 None None None None None None PIGT|0.214788369|35.03%
View 2-ac-cap17_s1 genome 20 rs707577
dbSNP Clinvar 		44054349 22615.15 T C PASS 1/1 794 SYNONYMOUS_CODING LOW None 0.70967 0.70970 0.22590 None None None None None None PIGT|0.214788369|35.03%

PRKCG
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 2-ac-cap17_s1 genome 19 rs2547362
dbSNP Clinvar 		54385820 21146.3 C T PASS 1/1 785 SYNONYMOUS_CODING LOW None 0.89637 0.89640 0.11772 None None None None None None PRKCG|0.317280568|26.29%

PRUNE
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 2-ac-cap17_s1 genome 1 rs3738476
dbSNP Clinvar 		151006539 21957.18 C A PASS 1/1 777 SYNONYMOUS_CODING LOW None 0.50939 0.50940 0.14547 None None None None None None PRUNE|0.15166661|42.73%

SACS
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 2-ac-cap17_s1 genome 13 rs2737701
dbSNP Clinvar 		23907677 16970.31 C T PASS 1/1 614 SYNONYMOUS_CODING LOW None 0.98542 0.98540 0.01561 None None None None None None None

SLC9A1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 2-ac-cap17_s1 genome 1 rs34306208
dbSNP Clinvar 		27480757 20103.31 A G PASS 1/1 736 SYNONYMOUS_CODING LOW None 0.24980 0.24980 0.32685 None None None None None None SLC9A1|0.25122217|31.44%
View 2-ac-cap17_s1 genome 1 rs4418629
dbSNP Clinvar 		27427041 20615.27 T C PASS 1/1 735 SYNONYMOUS_CODING LOW None 0.98922 0.98920 0.02868 None None None None None None SLC9A1|0.25122217|31.44%

SPTBN2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 2-ac-cap17_s1 genome 11 rs4930388
dbSNP Clinvar 		66472274 18505.28 T C PASS 1/1 653 NON_SYNONYMOUS_CODING MODERATE None 0.98782 0.98780 0.01185 0.47 0.00 None None None None None None None

TSEN54
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 2-ac-cap17_s1 genome 17 rs6501820
dbSNP Clinvar 		73518284 17293.84 G C PASS 1/1 608 SYNONYMOUS_CODING LOW None 0.81430 0.81430 0.06497 None None None None None None TSEN54|0.050099364|62.63%

WDR73
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 2-ac-cap17_s1 genome 15 rs2271432
dbSNP Clinvar 		85188994 19837.32 T C PASS 1/1 709 SYNONYMOUS_CODING LOW None 0.89537 0.89540 0.12117 None None None None None None WDR73|0.033188402|68.08%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 2-ac-cap17_s1 genome X rs144678509
dbSNP Clinvar 		152846544 11403.82 T TG PASS 1/1 359 None None None 0.84318 0.84320 None None None None None None ATP2B3|0.203946244|36.25%
View 2-ac-cap17_s1 genome X rs4898425
dbSNP Clinvar 		152847291 10180.74 T C PASS 1/1 372 None None None 0.85086 0.85090 None None None None None None ATP2B3|0.203946244|36.25%
View 2-ac-cap17_s1 genome X rs4898426
dbSNP Clinvar 		152847301 10480.61 G C PASS 1/1 392 None None None 0.85166 0.85170 None None None None None None ATP2B3|0.203946244|36.25%
View 2-ac-cap17_s1 genome 1 rs5810
dbSNP Clinvar 		27426219 19887.95 A G PASS 1/1 702 None None None 0.28115 0.28120 None None None None None None SLC9A1|0.25122217|31.44%
View 2-ac-cap17_s1 genome X rs5945311
dbSNP Clinvar 		152847488 10807.35 T G PASS 1/1 379 None None None 0.85192 0.85190 None None None None None None ATP2B3|0.203946244|36.25%
View 2-ac-cap17_s1 genome 1 rs4266911
dbSNP Clinvar 		27426796 18604.72 T C PASS 1/1 680 None None None 0.98742 0.98740 0.03007 None None None None None None SLC9A1|0.25122217|31.44%
View 2-ac-cap17_s1 genome 1 rs6598870
dbSNP Clinvar 		27428321 16085.21 T C PASS 1/1 600 None None None 0.27716 0.27720 0.36179 None None None None None None SLC9A1|0.25122217|31.44%
View 2-ac-cap17_s1 genome 1 rs7542969
dbSNP Clinvar 		27481530 14052.5 A G PASS 1/1 462 None None None 0.28674 0.28670 None None None None None None SLC9A1|0.25122217|31.44%
View 2-ac-cap17_s1 genome 6 rs4707374
dbSNP Clinvar 		88255438 15335.48 T C PASS 1/1 538 None None None 0.63898 0.63900 0.39329 None None None None None None RARS2|0.384895275|21.71%
View 2-ac-cap17_s1 genome 7 rs57553723,rs397826817
dbSNP Clinvar 		149476666 26040.19 G GC PASS 1/1 726 None None None 1.00000 1.00000 0.00177 None None None None None None None
View 2-ac-cap17_s1 genome 7 rs10952230
dbSNP Clinvar 		149511985 19259.02 A G PASS 1/1 670 None None None 0.87081 0.87080 0.11700 None None None None None None None
View 2-ac-cap17_s1 genome 7 rs2074693
dbSNP Clinvar 		149500013 12899.65 C G PASS 1/1 443 None None None 0.43091 0.43090 0.38450 None None None None None None None
View 2-ac-cap17_s1 genome 7 rs71194663,rs397815440
dbSNP Clinvar 		149506211 28098.43 G GC PASS 1/1 673 None None None 1.00000 1.00000 0.00051 None None None None None None None
View 2-ac-cap17_s1 genome 9 rs12379259
dbSNP Clinvar 		2622121 13716.14 A G PASS 1/1 490 None None None 0.81230 0.81230 None None None None None None None
View 2-ac-cap17_s1 genome 11 rs532439
dbSNP Clinvar 		66469032 20592.38 T C PASS 1/1 728 None None None 0.75340 0.75340 0.28568 None None None None None None None
View 2-ac-cap17_s1 genome 15 rs510875
dbSNP Clinvar 		85186637 21332.4 G C PASS 1/1 763 None None None 0.65415 0.65420 None None None None None None WDR73|0.033188402|68.08%
View 2-ac-cap17_s1 genome 17 rs631905
dbSNP Clinvar 		26883313 18262.03 A G PASS 1/1 659 None None None 0.48702 0.48700 0.48539 None None None None None None PIGS|0.21644599|34.82%
View 2-ac-cap17_s1 genome 17 rs183199
dbSNP Clinvar 		45000547 16352.49 G C PASS 1/1 596 None None None 0.95367 0.95370 0.04904 None None None None None None GOSR2|0.237320017|32.66%
View 2-ac-cap17_s1 genome 17 rs8078556
dbSNP Clinvar 		45016427 23754.84 T C PASS 1/1 871 None None None 0.93630 0.93630 None None None None None None GOSR2|0.237320017|32.66%
View 2-ac-cap17_s1 genome 17 rs198550
dbSNP Clinvar 		48652875 14344.53 A G PASS 1/1 510 None None None 0.69609 0.69610 0.42575 None None None None None None CACNA1G|0.364374297|23.14%
View 2-ac-cap17_s1 genome 19 rs143342886,rs869287699,rs544252445
dbSNP Clinvar 		13317490 37612.98 GTTA G PASS 1/1 749 None None None 0.55691 0.55690 None None None None None None None
View 2-ac-cap17_s1 genome 19 rs16018
dbSNP Clinvar 		13411482 18680.77 G A PASS 1/1 679 None None None 0.73922 0.73920 0.35477 None None None None None None None
View 2-ac-cap17_s1 genome 19 rs307942
dbSNP Clinvar 		54385437 18818.51 A C PASS 1/1 666 None None None 0.98962 0.98960 None None None None None None PRKCG|0.317280568|26.29%
View 2-ac-cap17_s1 genome 20 rs3092108
dbSNP Clinvar 		44048065 20706.04 C CG PASS 1/1 671 None None None 0.49617 None None None None None None PIGT|0.214788369|35.03%
View 2-ac-cap17_s1 genome X rs2980013
dbSNP Clinvar 		152807923 8047.65 G C PASS 1/1 281 None None None 0.98861 0.98860 0.00975 None None None None None None ATP2B3|0.203946244|36.25%
View 2-ac-cap17_s1 genome X rs3020957
dbSNP Clinvar 		152821887 9342.16 C T PASS 1/1 335 None None None 0.94570 0.94570 0.05906 None None None None None None ATP2B3|0.203946244|36.25%
View 2-ac-cap17_s1 genome X rs3020959
dbSNP Clinvar 		152825414 9800.87 G T PASS 1/1 355 None None None 0.88106 0.88110 0.14731 None None None None None None ATP2B3|0.203946244|36.25%
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