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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

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+ Genes 5

Genes:
ABCA4, MTOR, SHC1, TACSTD2, WNT9A,

+ Genes associated with diseases 3

Genes at Omim

ABCA4, MTOR, TACSTD2,
ABCA4 {Macular degeneration, age-related, 2}, 153800 (3)
Cone-rod dystrophy 3, 604116 (3)
Fundus flavimaculatus, 248200 (3)
Retinal dystrophy, early-onset severe, 248200 (3)
Retinitis pigmentosa 19, 601718 (3)
Stargardt disease 1, 248200 (3)
MTOR Focal cortical dysplasia, type II, somatic, 607341 (3)
Smith-Kingsmore syndrome, 616638 (3)
TACSTD2 Corneal dystrophy, gelatinous drop-like, 204870 (3)

Genes at Clinical Genomics Database

ABCA4, MTOR, TACSTD2,
ABCA4 Cone-rod dystrophy 3
Retinitis pigmentosa 19
Stargardt disease 1
Retinal dystrophy, early-onset severe
Fundus flavimaculatus
MTOR Smith-Kingsmore syndrome
TACSTD2 Corneal dystrophy, gelatinous drop-like

Genes at HGMD

Summary

Number of Variants: 39
Number of Genes: 5

Export to: CSV
  • Page 1 of 1

ABCA4
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 2636_s28 1 rs4147831
dbSNP Clinvar 		94544233 100.0 G A PASS 0/1 24 SYNONYMOUS_CODING LOW None 0.11462 0.11460 0.09457 None None None None None None ABCA4|0.440503373|18.63%
View 2636_s28 1 rs1801555
dbSNP Clinvar 		94466659 100.0 A G PASS 1/1 19 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.30112 0.30110 0.29886 None None None None None None ABCA4|0.440503373|18.63%
View 2636_s28 1 rs61748536
dbSNP Clinvar 		94564500 100.0 G A PASS 0/1 26 SYNONYMOUS_CODING LOW None 0.00359 0.00419 0.00323 None None None None None None ABCA4|0.440503373|18.63%
View 2636_s28 1 rs1801574
dbSNP Clinvar 		94476388 100.0 C G PASS 0/1 18 SYNONYMOUS_CODING LOW None 0.20068 0.20070 0.24927 None None None None None None ABCA4|0.440503373|18.63%
View 2636_s28 1 rs3112831
dbSNP Clinvar 		94544234 100.0 T C PASS 0/1 24 NON_SYNONYMOUS_CODING MODERATE None 0.22085 0.22080 0.26065 0.63 0.00 None None None None None None ABCA4|0.440503373|18.63%
View 2636_s28 1 rs4147857
dbSNP Clinvar 		94474328 100.0 T C PASS 0/1 52 SYNONYMOUS_CODING LOW None 0.18750 0.18750 0.20691 None None None None None None ABCA4|0.440503373|18.63%
View 2636_s28 1 rs2275029
dbSNP Clinvar 		94473845 100.0 T C PASS 0/1 22 SYNONYMOUS_CODING LOW None 0.16713 0.16710 0.19968 None None None None None None ABCA4|0.440503373|18.63%
View 2636_s28 1 rs1762114
dbSNP Clinvar 		94471075 100.0 A G PASS 0/1 29 SYNONYMOUS_CODING LOW None 0.76997 0.77000 0.22428 None None None None None None ABCA4|0.440503373|18.63%
View 2636_s28 1 rs1801359
dbSNP Clinvar 		94467447 100.0 G A PASS 0/1 50 SYNONYMOUS_CODING LOW None 0.13399 0.13400 0.14601 None None None None None None ABCA4|0.440503373|18.63%
View 2636_s28 1 rs4847281
dbSNP Clinvar 		94578548 100.0 T C PASS 1/1 11 SYNONYMOUS_CODING LOW None 0.98702 0.98700 0.01230 None None None None None None ABCA4|0.440503373|18.63%

MTOR
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 2636_s28 1 rs11121691
dbSNP Clinvar 		11181327 100.0 C T PASS 0/1 21 SYNONYMOUS_CODING LOW None 0.22065 0.22060 0.30209 None None None None None None MTOR|0.997612705|0.59%
View 2636_s28 1 rs2275527
dbSNP Clinvar 		11190646 100.0 G A PASS 0/1 45 SYNONYMOUS_CODING LOW None 0.22863 0.22860 0.30594 None None None None None None MTOR|0.997612705|0.59%

SHC1
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 2636_s28 1 rs1131397
dbSNP Clinvar 		154938235 73.0 G C PASS 0/1 19 SYNONYMOUS_CODING LOW None 0.15835 0.15830 0.17523 None None None None None None SHC1|0.69492859|8.65%

TACSTD2
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 2636_s28 1 rs35075952
dbSNP Clinvar 		59042311 100.0 T G PASS 0/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.10403 0.10400 0.12250 0.82 0.00 None None None None None None TACSTD2|0.037867047|66.49%

WNT9A
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 2636_s28 1 rs3795768
dbSNP Clinvar 		228113163 100.0 A G PASS 1/1 62 SYNONYMOUS_CODING LOW None 0.68770 0.68770 0.24649 None None None None None None WNT9A|0.206885197|35.91%
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 2636_s28 1 rs537831
dbSNP Clinvar 		94476555 100.0 G A PASS 0/1 73 None None None 0.69149 0.69150 None None None None None None ABCA4|0.440503373|18.63%
View 2636_s28 1 rs4147856
dbSNP Clinvar 		94474452 100.0 T G PASS 0/1 52 None None None 0.18770 0.18770 0.20698 None None None None None None ABCA4|0.440503373|18.63%
View 2636_s28 1 rs2275031
dbSNP Clinvar 		94473896 100.0 G T PASS 0/1 22 None None None 0.17812 0.17810 0.20114 None None None None None None ABCA4|0.440503373|18.63%
View 2636_s28 1 rs1800739
dbSNP Clinvar 		94473864 100.0 C T PASS 0/1 22 None None None 0.18331 0.18330 0.20837 None None None None None None ABCA4|0.440503373|18.63%
View 2636_s28 1 rs17110761
dbSNP Clinvar 		94467407 100.0 C T PASS 0/1 50 None None None 0.13399 0.13400 0.14593 None None None None None None ABCA4|0.440503373|18.63%
View 2636_s28 1 rs1800699
dbSNP Clinvar 		94463396 100.0 G A PASS 0/1 68 None None None 0.01398 0.01398 0.01053 None None None None None None ABCA4|0.440503373|18.63%
View 2636_s28 1 rs2820969
dbSNP Clinvar 		47883024 100.0 A G PASS 1/1 83 None None None 0.99481 0.99480 None None None None None None FOXE3|0.032576489|68.36%
View 2636_s28 1 rs6666370
dbSNP Clinvar 		47883019 100.0 T C PASS 1/1 81 None None None 0.79693 0.79690 None None None None None None FOXE3|0.032576489|68.36%
View 2636_s28 1 rs274753
dbSNP Clinvar 		36565584 100.0 C G PASS 0/1 48 None None None 0.92173 0.92170 None None None None None None COL8A2|0.188633378|37.99%
View 2636_s28 1 rs1148477
dbSNP Clinvar 		11174850 100.0 C T PASS 0/1 46 None None None 0.01797 0.01797 0.01315 None None None None None None MTOR|0.997612705|0.59%
View 2636_s28 1 rs4653889
dbSNP Clinvar 		228112121 100.0 A G PASS 1/1 70 None None None 0.51617 0.51620 0.42980 None None None None None None WNT9A|0.206885197|35.91%
View 2636_s28 1 rs1518111
dbSNP Clinvar 		206944645 100.0 T C PASS 0/1 27 None None None 0.57308 0.57310 0.26741 None None None None None None IL10|0.653335058|9.97%
View 2636_s28 1 rs2297634
dbSNP Clinvar 		94576968 100.0 T C PASS 0/1 17 None None None 0.54693 0.54690 0.47309 None None None None None None ABCA4|0.440503373|18.63%
View 2636_s28 1 rs2297635
dbSNP Clinvar 		94576893 100.0 G A PASS 0/1 17 None None None 0.22125 0.22120 None None None None None None ABCA4|0.440503373|18.63%
View 2636_s28 1 rs17111045
dbSNP Clinvar 		94564288 100.0 G A PASS 0/1 62 None None None 0.00399 0.00399 None None None None None None ABCA4|0.440503373|18.63%
View 2636_s28 1 rs526016
dbSNP Clinvar 		94549029 100.0 A G PASS 0/1 21 None None None 0.19768 0.19770 0.24488 None None None None None None ABCA4|0.440503373|18.63%
View 2636_s28 1 rs4147830
dbSNP Clinvar 		94544276 100.0 G A PASS 0/1 24 None None None 0.51478 0.51480 0.46548 None None None None None None ABCA4|0.440503373|18.63%
View 2636_s28 1 rs4147833
dbSNP Clinvar 		94528363 100.0 C T PASS 0/1 39 None None None 0.37360 0.37360 None None None None None None ABCA4|0.440503373|18.63%
View 2636_s28 1 rs11810336
dbSNP Clinvar 		94506992 60.0 T C PASS 0/1 17 None None None 0.02935 0.02935 0.03199 None None None None None None ABCA4|0.440503373|18.63%
View 2636_s28 1 rs547806
dbSNP Clinvar 		94495930 100.0 T C PASS 1/1 14 None None None 0.98822 0.98820 None None None None None None ABCA4|0.440503373|18.63%
View 2636_s28 1 rs472908
dbSNP Clinvar 		94487354 100.0 G A PASS 0/1 54 None None None 0.58886 0.58890 0.36977 None None None None None None ABCA4|0.440503373|18.63%
View 2636_s28 1 rs2275033
dbSNP Clinvar 		94480037 100.0 C T PASS 0/1 48 None None None 0.32708 0.32710 None None None None None None ABCA4|0.440503373|18.63%
View 2636_s28 1 rs4147899
dbSNP Clinvar 		94476991 100.0 CT C PASS 0/1 55 None None None 0.00060 0.19890 0.24864 None None None None None None ABCA4|0.440503373|18.63%
View 2636_s28 1 rs2065711
dbSNP Clinvar 		94476695 100.0 C T PASS 0/1 26 None None None 0.20028 0.20030 None None None None None None ABCA4|0.440503373|18.63%
  • Page 1 of 1