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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

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+ Genes 5

Genes:
ABCA4, FOXE3, MTOR, UBIAD1, WNT9A,

+ Genes associated with diseases 4

Genes at Omim

ABCA4, FOXE3, MTOR, UBIAD1,
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)
FOXE3 Anterior segment dysgenesis 2, multiple subtypes, 610256 (3)
Cataract 34, multiple types, 612968 (3)
{Aortic aneurysm, familial thoracic 11, susceptibility to}, 617349 (3)
MTOR Focal cortical dysplasia, type II, somatic, 607341 (3)
Smith-Kingsmore syndrome, 616638 (3)
UBIAD1 Corneal dystrophy, Schnyder type, 121800 (3)

Genes at Clinical Genomics Database

ABCA4, FOXE3, MTOR, UBIAD1,
ABCA4 Cone-rod dystrophy 3
Retinitis pigmentosa 19
Stargardt disease 1
Retinal dystrophy, early-onset severe
Fundus flavimaculatus
FOXE3 Aphakia, congenital primary
Anterior segment mesenchymal dysgenesis
MTOR Smith-Kingsmore syndrome
UBIAD1 Corneal dystrophy, crystalline, of Schnyder

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 22603_s43 1 rs3112831
dbSNP Clinvar 		94544234 100.0 T C PASS 0/1 17 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 22603_s43 1 rs4847281
dbSNP Clinvar 		94578548 100.0 T C PASS 1/1 19 SYNONYMOUS_CODING LOW None 0.98702 0.98700 0.01230 None None None None None None ABCA4|0.440503373|18.63%
View 22603_s43 1 rs1762114
dbSNP Clinvar 		94471075 100.0 A G PASS 1/1 24 SYNONYMOUS_CODING LOW None 0.76997 0.77000 0.22428 None None None None None None ABCA4|0.440503373|18.63%
View 22603_s43 1 rs2275029
dbSNP Clinvar 		94473845 100.0 T C PASS 0/1 37 SYNONYMOUS_CODING LOW None 0.16713 0.16710 0.19968 None None None None None None ABCA4|0.440503373|18.63%
View 22603_s43 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 22603_s43 1 rs1801574
dbSNP Clinvar 		94476388 100.0 C G PASS 0/1 27 SYNONYMOUS_CODING LOW None 0.20068 0.20070 0.24927 None None None None None None ABCA4|0.440503373|18.63%

FOXE3
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 22603_s43 1 rs34082359
dbSNP Clinvar 		47882497 100.0 C T PASS 0/1 32 SYNONYMOUS_CODING LOW None 0.27855 0.27860 0.31318 None None None None None None FOXE3|0.032576489|68.36%

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 22603_s43 1 rs1057079
dbSNP Clinvar 		11205058 100.0 C T PASS 1/1 37 SYNONYMOUS_CODING LOW None 0.54752 0.54750 0.45410 None None None None None None MTOR|0.997612705|0.59%
View 22603_s43 1 rs1064261
dbSNP Clinvar 		11288758 100.0 G A PASS 1/1 49 SYNONYMOUS_CODING LOW None 0.70048 0.70050 0.38244 None None None None None None MTOR|0.997612705|0.59%
View 22603_s43 1 rs1135172
dbSNP Clinvar 		11301714 100.0 A G PASS 1/1 67 SYNONYMOUS_CODING LOW None 0.63958 0.63960 0.41466 None None None None None None MTOR|0.997612705|0.59%

UBIAD1
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 22603_s43 1 rs114000606
dbSNP Clinvar 		11333812 100.0 C T PASS 0/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.00319 0.00320 0.00877 0.70 0.08 None None None None None None UBIAD1|0.193617657|37.45%

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 22603_s43 1 rs3795768
dbSNP Clinvar 		228113163 100.0 A G PASS 0/1 48 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 22603_s43 1 rs547806
dbSNP Clinvar 		94495930 100.0 T C PASS 1/1 30 None None None 0.98822 0.98820 None None None None None None ABCA4|0.440503373|18.63%
View 22603_s43 1 rs472908
dbSNP Clinvar 		94487354 100.0 G A PASS 0/1 40 None None None 0.58886 0.58890 0.36977 None None None None None None ABCA4|0.440503373|18.63%
View 22603_s43 1 rs2275033
dbSNP Clinvar 		94480037 100.0 C T PASS 1/1 76 None None None 0.32708 0.32710 None None None None None None ABCA4|0.440503373|18.63%
View 22603_s43 1 rs4147899
dbSNP Clinvar 		94476991 100.0 CT C PASS 0/1 29 None None None 0.00060 0.19890 0.24864 None None None None None None ABCA4|0.440503373|18.63%
View 22603_s43 1 rs2065711
dbSNP Clinvar 		94476695 100.0 C T PASS 0/1 29 None None None 0.20028 0.20030 None None None None None None ABCA4|0.440503373|18.63%
View 22603_s43 1 rs537831
dbSNP Clinvar 		94476555 100.0 G A PASS 0/1 71 None None None 0.69149 0.69150 None None None None None None ABCA4|0.440503373|18.63%
View 22603_s43 1 rs4147833
dbSNP Clinvar 		94528363 100.0 C T PASS 0/1 49 None None None 0.37360 0.37360 None None None None None None ABCA4|0.440503373|18.63%
View 22603_s43 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 22603_s43 1 rs537704501
dbSNP Clinvar 		94545991 100.0 C T PASS 0/1 33 None None None 0.00020 0.00020 None None None None None None ABCA4|0.440503373|18.63%
View 22603_s43 1 rs2275031
dbSNP Clinvar 		94473896 100.0 G T PASS 0/1 37 None None None 0.17812 0.17810 0.20114 None None None None None None ABCA4|0.440503373|18.63%
View 22603_s43 1 rs1800739
dbSNP Clinvar 		94473864 100.0 C T PASS 0/1 36 None None None 0.18331 0.18330 0.20837 None None None None None None ABCA4|0.440503373|18.63%
View 22603_s43 1 rs526016
dbSNP Clinvar 		94549029 100.0 A G PASS 0/1 32 None None None 0.19768 0.19770 0.24488 None None None None None None ABCA4|0.440503373|18.63%
View 22603_s43 1 rs4147863
dbSNP Clinvar 		94471154 100.0 C T PASS 0/1 24 None None None 0.14097 0.14100 0.17354 None None None None None None ABCA4|0.440503373|18.63%
View 22603_s43 1 rs4847278
dbSNP Clinvar 		94568491 100.0 A G PASS 0/1 72 None None None 0.34046 0.34050 None None None None None None ABCA4|0.440503373|18.63%
View 22603_s43 1 rs2820969
dbSNP Clinvar 		47883024 100.0 A G PASS 1/1 67 None None None 0.99481 0.99480 None None None None None None FOXE3|0.032576489|68.36%
View 22603_s43 1 rs6666370
dbSNP Clinvar 		47883019 100.0 T C PASS 0/1 67 None None None 0.79693 0.79690 None None None None None None FOXE3|0.032576489|68.36%
View 22603_s43 1 rs2297634
dbSNP Clinvar 		94576968 100.0 T C PASS 0/1 37 None None None 0.54693 0.54690 0.47309 None None None None None None ABCA4|0.440503373|18.63%
View 22603_s43 1 rs96067
dbSNP Clinvar 		36571920 100.0 G A PASS 1/1 36 None None None 0.62939 0.62940 None None None None None None COL8A2|0.188633378|37.99%
View 22603_s43 1 rs274754
dbSNP Clinvar 		36565617 100.0 G A PASS 1/1 28 None None None 0.48263 0.48260 0.34707 None None None None None None COL8A2|0.188633378|37.99%
View 22603_s43 1 rs274753
dbSNP Clinvar 		36565584 100.0 C G PASS 1/1 27 None None None 0.92173 0.92170 None None None None None None COL8A2|0.188633378|37.99%
View 22603_s43 1 rs3738360
dbSNP Clinvar 		36563158 100.0 C A PASS 1/1 22 None None None 0.65635 0.65630 0.21613 None None None None None None COL8A2|0.188633378|37.99%
View 22603_s43 1 rs1554286
dbSNP Clinvar 		206944233 100.0 A G PASS 1/1 30 None None None 0.59185 0.59190 0.24912 None None None None None None IL10|0.653335058|9.97%
View 22603_s43 1 rs565848493
dbSNP Clinvar 		11316936 100.0 C G PASS 0/1 18 None None None 0.00040 None None None None None None MTOR|0.997612705|0.59%
View 22603_s43 1 rs1518111
dbSNP Clinvar 		206944645 100.0 T C PASS 1/1 28 None None None 0.57308 0.57310 0.26741 None None None None None None IL10|0.653335058|9.97%
View 22603_s43 1 rs7524202
dbSNP Clinvar 		11297762 100.0 T C PASS 1/1 43 None None None 0.70088 0.70090 None None None None None None MTOR|0.997612705|0.59%
View 22603_s43 1 rs3024506
dbSNP Clinvar 		206944659 100.0 A G PASS 0/1 29 None None None 0.00140 0.00140 0.00246 None None None None None None IL10|0.653335058|9.97%
View 22603_s43 1 rs4653889
dbSNP Clinvar 		228112121 100.0 A G PASS 0/1 55 None None None 0.51617 0.51620 0.42980 None None None None None None WNT9A|0.206885197|35.91%
  • Page 1 of 1