SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
CHR:

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


EXCLUDE VARIANTS AT VARISNP
READ DEPTH:

QUAL:
VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP
ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE
POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE
MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
OPEN RESULT IN A NEW WINDOW
RESET FILTER | Save Config | Save Analysis

Genes at Omim

ABCA4, COL8A2, MTOR,
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)
COL8A2 Corneal dystrophy, Fuchs endothelial, 1, 136800 (3)
Corneal dystrophy, posterior polymorphous 2, 609140 (3)
MTOR Focal cortical dysplasia, type II, somatic, 607341 (3)
Smith-Kingsmore syndrome, 616638 (3)

Genes at Clinical Genomics Database

ABCA4, COL8A2, MTOR,
ABCA4 Cone-rod dystrophy 3
Retinitis pigmentosa 19
Stargardt disease 1
Retinal dystrophy, early-onset severe
Fundus flavimaculatus
COL8A2 Corneal dystrophy polymorphous posterior, 2
Corneal dystrophy, Fuchs endothelial, 1
MTOR Smith-Kingsmore syndrome

Genes at HGMD

Summary

Number of Variants: 28
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 2761_s29 1 rs1762114
dbSNP Clinvar
94471075 100.0 A G PASS 1/1 36 SYNONYMOUS_CODING LOW None 0.76997 0.77000 0.22428 None None None None None None ABCA4|0.440503373|18.63%
View 2761_s29 1 rs4847281
dbSNP Clinvar
94578548 100.0 T C PASS 1/1 10 SYNONYMOUS_CODING LOW None 0.98702 0.98700 0.01230 None None None None None None ABCA4|0.440503373|18.63%

ANGPTL7

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 2761_s29 1 rs532498579
dbSNP Clinvar
11249940 100.0 T A PASS 0/1 31 NON_SYNONYMOUS_CODING MODERATE None 0.00100 0.00100 0.01 0.55 None None None None None None MTOR|0.997612705|0.59%,ANGPTL7|0.164614125|40.97%

COL8A2

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 2761_s29 1 rs35841184
dbSNP Clinvar
36563524 100.0 G A PASS 0/1 90 SYNONYMOUS_CODING LOW None 0.01278 0.01278 0.01953 None None None None None None COL8A2|0.188633378|37.99%
View 2761_s29 1 rs35495320
dbSNP Clinvar
36563797 95.0 C T PASS 0/1 15 SYNONYMOUS_CODING LOW None 0.18151 0.18150 0.02243 None None None None None None COL8A2|0.188633378|37.99%
View 2761_s29 1 rs57985157
dbSNP Clinvar
36565739 100.0 C T PASS 0/1 24 SYNONYMOUS_CODING LOW None 0.09665 0.09665 0.01153 None None None None None None COL8A2|0.188633378|37.99%

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 2761_s29 1 rs11121691
dbSNP Clinvar
11181327 100.0 C T PASS 0/1 22 SYNONYMOUS_CODING LOW None 0.22065 0.22060 0.30209 None None None None None None MTOR|0.997612705|0.59%
View 2761_s29 1 rs1135172
dbSNP Clinvar
11301714 100.0 A G PASS 0/1 30 SYNONYMOUS_CODING LOW None 0.63958 0.63960 0.41466 None None None None None None MTOR|0.997612705|0.59%
View 2761_s29 1 rs1064261
dbSNP Clinvar
11288758 100.0 G A PASS 0/1 85 SYNONYMOUS_CODING LOW None 0.70048 0.70050 0.38244 None None None None None None MTOR|0.997612705|0.59%
View 2761_s29 1 rs1057079
dbSNP Clinvar
11205058 100.0 C T PASS 0/1 19 SYNONYMOUS_CODING LOW None 0.54752 0.54750 0.45410 None None None None None None MTOR|0.997612705|0.59%
View 2761_s29 1 rs2275527
dbSNP Clinvar
11190646 100.0 G A PASS 0/1 66 SYNONYMOUS_CODING LOW None 0.22863 0.22860 0.30594 None None None None None None MTOR|0.997612705|0.59%

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 2761_s29 1 rs8192633
dbSNP Clinvar
228109471 100.0 C T PASS 0/1 39 SYNONYMOUS_CODING LOW None 0.01637 0.01637 0.01570 None None None None None None WNT9A|0.206885197|35.91%
View 2761_s29 1 rs3795768
dbSNP Clinvar
228113163 100.0 A G PASS 0/1 104 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 2761_s29 1 rs537831
dbSNP Clinvar
94476555 100.0 G A PASS 1/1 154 None None None 0.69149 0.69150 None None None None None None ABCA4|0.440503373|18.63%
View 2761_s29 1 rs2297634
dbSNP Clinvar
94576968 100.0 T C PASS 0/1 20 None None None 0.54693 0.54690 0.47309 None None None None None None ABCA4|0.440503373|18.63%
View 2761_s29 1 rs2820969
dbSNP Clinvar
47883024 100.0 A G PASS 1/1 93 None None None 0.99481 0.99480 None None None None None None FOXE3|0.032576489|68.36%
View 2761_s29 1 rs6666370
dbSNP Clinvar
47883019 100.0 T C PASS 1/1 95 None None None 0.79693 0.79690 None None None None None None FOXE3|0.032576489|68.36%
View 2761_s29 1 rs1554286
dbSNP Clinvar
206944233 100.0 A G PASS 1/1 24 None None None 0.59185 0.59190 0.24912 None None None None None None IL10|0.653335058|9.97%
View 2761_s29 1 rs274753
dbSNP Clinvar
36565584 100.0 C G PASS 0/1 53 None None None 0.92173 0.92170 None None None None None None COL8A2|0.188633378|37.99%
View 2761_s29 1 rs1518111
dbSNP Clinvar
206944645 100.0 T C PASS 1/1 44 None None None 0.57308 0.57310 0.26741 None None None None None None IL10|0.653335058|9.97%
View 2761_s29 1 rs4653889
dbSNP Clinvar
228112121 100.0 A G PASS 0/1 107 None None None 0.51617 0.51620 0.42980 None None None None None None WNT9A|0.206885197|35.91%
View 2761_s29 1 rs7524202
dbSNP Clinvar
11297762 100.0 T C PASS 0/1 24 None None None 0.70088 0.70090 None None None None None None MTOR|0.997612705|0.59%
View 2761_s29 1 rs2297635
dbSNP Clinvar
94576893 100.0 G A PASS 0/1 20 None None None 0.22125 0.22120 None None None None None None ABCA4|0.440503373|18.63%
View 2761_s29 1 rs4847278
dbSNP Clinvar
94568491 100.0 A G PASS 0/1 59 None None None 0.34046 0.34050 None None None None None None ABCA4|0.440503373|18.63%
View 2761_s29 1 rs4147833
dbSNP Clinvar
94528363 100.0 C T PASS 0/1 43 None None None 0.37360 0.37360 None None None None None None ABCA4|0.440503373|18.63%
View 2761_s29 1 rs472908
dbSNP Clinvar
94487354 100.0 G A PASS 0/1 42 None None None 0.58886 0.58890 0.36977 None None None None None None ABCA4|0.440503373|18.63%
View 2761_s29 1 rs547806
dbSNP Clinvar
94495930 100.0 T C PASS 1/1 15 None None None 0.98822 0.98820 None None None None None None ABCA4|0.440503373|18.63%
View 2761_s29 1 rs55860151
dbSNP Clinvar
94487285 100.0 AAC A PASS 0/1 24 None None None 0.22404 0.22400 0.14909 None None None None None None ABCA4|0.440503373|18.63%
  • Page 1 of 1