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+ Genes 5

Genes:
AKAP9, CACNA2D1, DPP6, KCNH2, TBX20,

+ Genes associated with diseases 4

Genes at Omim

AKAP9, DPP6, KCNH2, TBX20,
AKAP9 ?Long QT syndrome-11, 611820 (3)
DPP6 {Ventricular fibrillation, paroxysmal familial, 2}, 612956 (3)
Mental retardation, autosomal dominant 33, 616311 (3)
KCNH2 {Long QT syndrome 2, acquired, susceptibility to}, 613688 (3)
Long QT syndrome 2, 613688 (3)
Short QT syndrome 1, 609620 (3)
TBX20 Atrial septal defect 4, 611363 (3)

Genes at Clinical Genomics Database

AKAP9, DPP6, KCNH2, TBX20,
AKAP9 Long QT syndrome 11
DPP6 Ventricular fibrillation, paroxysmal familial, 2
KCNH2 Long QT syndrome 2
Short QT syndrome 1
TBX20 Atrial septal defect 4

Genes at HGMD

Summary

Number of Variants: 23
Number of Genes: 5

Export to: CSV
  • Page 1 of 1

AKAP9
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 na12877-rep1_s1 7 rs28927678
dbSNP Clinvar 		91715662 2718.41 C T PASS 0/1 261 SYNONYMOUS_CODING LOW None 0.29573 0.29570 0.35568 None None None None None None AKAP9|0.267262044|30.07%
View na12877-rep1_s1 7 rs10228334
dbSNP Clinvar 		91713972 2830.04 C T PASS 0/1 224 None None None 0.37380 0.37380 0.44096 None None None None None None AKAP9|0.267262044|30.07%
View na12877-rep1_s1 7 rs6960867
dbSNP Clinvar 		91712698 4643.39 A G PASS 0/1 360 NON_SYNONYMOUS_CODING MODERATE None 0.29593 0.29590 0.35607 0.71 0.00 None None None None None None AKAP9|0.267262044|30.07%
View na12877-rep1_s1 7 rs35759833
dbSNP Clinvar 		91708898 4803.78 A G PASS 0/1 436 NON_SYNONYMOUS_CODING MODERATE None 0.06550 0.06550 0.09450 0.48 0.00 None None None None None None AKAP9|0.267262044|30.07%
View na12877-rep1_s1 7 rs10236397
dbSNP Clinvar 		91691601 2247.78 C T PASS 0/1 225 SYNONYMOUS_CODING LOW None 0.35982 0.35980 0.42773 None None None None None None AKAP9|0.267262044|30.07%
View na12877-rep1_s1 7 rs10644111
dbSNP Clinvar 		91652178 7751.22 A AAAC PASS 0/1 264 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.42472 0.42470 0.47907 None None None None None None AKAP9|0.267262044|30.07%
View na12877-rep1_s1 7 rs13245393
dbSNP Clinvar 		91641928 4311.29 A G PASS 0/1 352 SYNONYMOUS_CODING LOW None 0.37380 0.37380 0.44180 None None None None None None AKAP9|0.267262044|30.07%
View na12877-rep1_s1 7 rs1063242
dbSNP Clinvar 		91714911 5057.03 C T PASS 1/1 185 NON_SYNONYMOUS_CODING MODERATE None 0.99880 0.99880 0.00261 1.00 0.00 None None None None None None AKAP9|0.267262044|30.07%
View na12877-rep1_s1 7 rs6964587
dbSNP Clinvar 		91630620 2135.75 G T PASS 0/1 172 NON_SYNONYMOUS_CODING MODERATE None 0.37220 0.37220 0.44047 0.05 0.00 None None None None None None AKAP9|0.267262044|30.07%
View na12877-rep1_s1 7 rs1989779
dbSNP Clinvar 		91632306 4085.65 C T PASS 0/1 301 SYNONYMOUS_CODING LOW None 0.93590 0.93590 0.09365 None None None None None None AKAP9|0.267262044|30.07%
View na12877-rep1_s1 7 rs1063243
dbSNP Clinvar 		91726927 3315.31 A C PASS 0/1 332 SYNONYMOUS_CODING LOW None 0.37740 0.37740 0.44626 None None None None None None AKAP9|0.267262044|30.07%

CACNA2D1
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 na12877-rep1_s1 7 rs1229502
dbSNP Clinvar 		81588636 1294.9 G A PASS 0/1 138 SYNONYMOUS_CODING LOW None 0.22264 0.22260 0.25527 None None None None None None CACNA2D1|0.586589445|12.28%

DPP6
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 na12877-rep1_s1 7 rs3734960
dbSNP Clinvar 		154684153 6396.2 T C PASS 0/1 574 NON_SYNONYMOUS_CODING MODERATE None 0.35603 0.35600 0.34855 0.14 0.00 None None None None None None DPP6|0.155216903|42.27%
View na12877-rep1_s1 7 rs1129301
dbSNP Clinvar 		154681216 4893.68 G A PASS 0/1 552 SYNONYMOUS_CODING LOW None 0.26398 0.26400 0.20487 None None None None None None DPP6|0.155216903|42.27%
View na12877-rep1_s1 7 rs1129300
dbSNP Clinvar 		154681050 3044.35 C T PASS 0/1 253 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.16134 0.16130 0.08672 None None None None None None DPP6|0.155216903|42.27%
View na12877-rep1_s1 7 rs2230064
dbSNP Clinvar 		154667643 3342.85 G A PASS 0/1 331 SYNONYMOUS_CODING LOW None 0.17752 0.17750 0.28987 None None None None None None DPP6|0.155216903|42.27%
View na12877-rep1_s1 7 rs2293353
dbSNP Clinvar 		154667628 2910.36 A G PASS 0/1 307 SYNONYMOUS_CODING LOW None 0.58726 0.58730 0.41216 None None None None None None DPP6|0.155216903|42.27%
View na12877-rep1_s1 7 rs3807218
dbSNP Clinvar 		154461112 7253.76 A G PASS 1/1 289 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.79732 0.79730 0.16409 None None None None None None DPP6|0.155216903|42.27%
View na12877-rep1_s1 7 rs11243339
dbSNP Clinvar 		154429560 6778.69 C T PASS 1/1 261 SYNONYMOUS_CODING LOW None 0.69709 0.69710 0.34661 None None None None None None DPP6|0.155216903|42.27%

KCNH2
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 na12877-rep1_s1 7 rs1805123
dbSNP Clinvar 		150645534 648.91 T G PASS 0/1 66 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.13618 0.13620 0.16908 0.31 0.00 None None None None None None KCNH2|0.688011457|8.87%
View na12877-rep1_s1 7 rs1137617
dbSNP Clinvar 		150648198 4148.83 A G PASS 1/1 161 SYNONYMOUS_CODING LOW None 0.77217 0.77220 0.30955 None None None None None None KCNH2|0.688011457|8.87%
View na12877-rep1_s1 7 rs1805121
dbSNP Clinvar 		150648789 1940.93 T C PASS 0/1 217 SYNONYMOUS_CODING LOW None 0.60843 0.60840 0.48939 None None None None None None KCNH2|0.688011457|8.87%

TBX20
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 na12877-rep1_s1 7 rs336283
dbSNP Clinvar 		35293193 1430.39 A G PASS 0/1 137 SYNONYMOUS_CODING LOW None 0.69389 0.69390 0.25373 None None None None None None TBX20|0.800243381|5.83%
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