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

COL17A1, ZEB1,
COL17A1 Epidermolysis bullosa, junctional, localisata variant, 226650 (3)
Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
Epithelial recurrent erosion dystrophy, 122400 (3)
ZEB1 Corneal dystrophy, Fuchs endothelial, 6, 613270 (3)
Corneal dystrophy, posterior polymorphous, 3, 609141 (3)

Genes at Clinical Genomics Database

COL17A1, ZEB1,
COL17A1 Epithelial recurrent erosion dystrophy (ERED)
Epidermolysis bullosa, junctional, non-Herlitz type
ZEB1 Corneal dystrophy, Fuchs endothelial 6
Corneal dystrophy, posterior polymorphous, 3

Genes at HGMD

Summary

Number of Variants: 38
Number of Genes: 4

Export to: CSV
  • Page 1 of 1

COL17A1

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 12066_s20 10 rs805698
dbSNP Clinvar
105816916 100.0 C T PASS 0/1 26 NON_SYNONYMOUS_CODING MODERATE None 0.81849 0.81850 0.15113 0.46 0.00 None None None None None None COL17A1|0.220252717|34.39%
View 12066_s20 10 rs2476958
dbSNP Clinvar
105796819 100.0 A G PASS 1/1 69 SYNONYMOUS_CODING LOW None 0.98602 0.98600 0.01377 None None None None None None COL17A1|0.220252717|34.39%
View 12066_s20 10 rs148120407
dbSNP Clinvar
105797484 100.0 G A PASS 0/1 96 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.00020 0.00054 0.01 0.99 None None None None None None COL17A1|0.220252717|34.39%
View 12066_s20 10 rs2274100
dbSNP Clinvar
105798872 100.0 T C PASS 0/1 42 SYNONYMOUS_CODING LOW None 0.68151 0.68150 0.27749 None None None None None None COL17A1|0.220252717|34.39%
View 12066_s20 10 rs2296219
dbSNP Clinvar
105799216 100.0 G T PASS 0/1 23 SYNONYMOUS_CODING LOW None 0.68351 0.68350 0.28487 None None None None None None COL17A1|0.220252717|34.39%
View 12066_s20 10 rs805708
dbSNP Clinvar
105824333 100.0 G A PASS 0/1 63 NON_SYNONYMOUS_CODING MODERATE None 0.56490 0.56490 0.41489 0.00 0.89 None None None None None None COL17A1|0.220252717|34.39%
View 12066_s20 10 rs4918079
dbSNP Clinvar
105801253 100.0 G A PASS 0/1 42 SYNONYMOUS_CODING LOW None 0.67392 0.67390 0.28187 None None None None None None COL17A1|0.220252717|34.39%
View 12066_s20 10 rs805722
dbSNP Clinvar
105810400 100.0 T C PASS 0/1 47 NON_SYNONYMOUS_CODING MODERATE None 0.69369 0.69370 0.28095 0.64 0.00 None None None None None None COL17A1|0.220252717|34.39%
View 12066_s20 10 rs805701
dbSNP Clinvar
105819956 100.0 G A PASS 0/1 32 SYNONYMOUS_CODING LOW None 0.55252 0.55250 0.44480 None None None None None None COL17A1|0.220252717|34.39%

ITGB1

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 12066_s20 10 rs2230396
dbSNP Clinvar
33209266 100.0 G T PASS 1/1 97 SYNONYMOUS_CODING LOW None 0.78455 0.78450 0.17446 None None None None None None ITGB1|0.816912657|5.38%

SFTPD

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 12066_s20 10 rs80268129
dbSNP Clinvar
81701739 100.0 C T PASS 0/1 59 NON_SYNONYMOUS_CODING MODERATE None 0.00439 0.00439 0.00369 0.20 0.01 None None None None None None SFTPD|0.023000884|72.72%
View 12066_s20 10 rs2243639
dbSNP Clinvar
81701722 100.0 T C PASS 0/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.77037 0.77040 0.28395 1.00 0.00 None None None None None None SFTPD|0.023000884|72.72%
View 12066_s20 10 rs721917
dbSNP Clinvar
81706324 100.0 A G PASS 0/1 141 NON_SYNONYMOUS_CODING MODERATE None 0.50459 0.50460 0.41358 0.32 0.00 None None None None None None SFTPD|0.023000884|72.72%

ZEB1

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 12066_s20 10 rs7918614
dbSNP Clinvar
31750099 100.0 C T PASS 0/1 127 SYNONYMOUS_CODING LOW None 0.08586 0.08586 0.06428 None None None None None None ZEB1|0.848008697|4.69%
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 12066_s20 10 rs805704
dbSNP Clinvar
105821136 63.0 A T PASS 0/1 15 None None None 0.05811 0.05811 0.08358 None None None None None None COL17A1|0.220252717|34.39%
View 12066_s20 10 rs813944
dbSNP Clinvar
105805497 100.0 C T PASS 0/1 57 None None None 0.43610 0.43610 0.43242 None None None None None None COL17A1|0.220252717|34.39%
View 12066_s20 10 rs805720
dbSNP Clinvar
105805436 100.0 G A PASS 1/1 57 None None None 0.98602 0.98600 0.01511 None None None None None None COL17A1|0.220252717|34.39%
View 12066_s20 10 rs17116368
dbSNP Clinvar
105803512 100.0 G A PASS 0/1 75 None None None 0.02276 0.02276 0.02059 None None None None None None COL17A1|0.220252717|34.39%
View 12066_s20 10 rs75990351
dbSNP Clinvar
105801374 100.0 A T PASS 0/1 42 None None None 0.03195 0.03195 None None None None None None COL17A1|0.220252717|34.39%
View 12066_s20 10 rs805705
dbSNP Clinvar
105821294 48.0 A G PASS 0/1 14 None None None 0.83806 0.83810 0.11870 None None None None None None COL17A1|0.220252717|34.39%
View 12066_s20 10 rs796519102
dbSNP Clinvar
105831714 100.0 GCA G R5x9 0/1 73 None None None 0.10264 0.10260 None None None None None None COL17A1|0.220252717|34.39%
View 12066_s20 10 rs220060
dbSNP Clinvar
31803516 100.0 G A PASS 1/1 67 None None None 0.92133 0.92130 0.08459 None None None None None None ZEB1|0.848008697|4.69%
View 12066_s20 10 rs2282437
dbSNP Clinvar
105797378 100.0 G A PASS 0/1 62 None None None 0.68291 0.68290 0.28364 None None None None None None COL17A1|0.220252717|34.39%
View 12066_s20 10 rs2153875
dbSNP Clinvar
33190567 100.0 C A PASS 0/1 26 None None None 0.51118 0.51120 0.40558 None None None None None None ITGB1|0.816912657|5.38%
View 12066_s20 10 rs805714
dbSNP Clinvar
105796738 100.0 A C PASS 1/1 67 None None None 0.98602 0.98600 0.01424 None None None None None None COL17A1|0.220252717|34.39%
View 12066_s20 10 rs2476957
dbSNP Clinvar
105796449 100.0 A G PASS 1/1 41 None None None 0.98582 0.98580 None None None None None None COL17A1|0.220252717|34.39%
View 12066_s20 10 rs2274098
dbSNP Clinvar
105796399 100.0 G C PASS 0/1 41 None None None 0.69149 0.69150 0.27710 None None None None None None COL17A1|0.220252717|34.39%
View 12066_s20 10 rs1747675
dbSNP Clinvar
105793173 100.0 T G PASS 1/1 44 None None None 0.98443 0.98440 0.01515 None None None None None None COL17A1|0.220252717|34.39%
View 12066_s20 10 rs192988199
dbSNP Clinvar
105792942 100.0 C A PASS 0/1 52 None None None 0.00220 0.00220 None None None None None None COL17A1|0.220252717|34.39%
View 12066_s20 10 rs17116338
dbSNP Clinvar
105792529 100.0 G A PASS 0/1 99 None None None 0.03654 0.03654 0.03552 None None None None None None COL17A1|0.220252717|34.39%
View 12066_s20 10 rs805688
dbSNP Clinvar
105792077 100.0 A G PASS 0/1 44 None None None 0.27776 0.27780 0.25942 None None None None None None COL17A1|0.220252717|34.39%
View 12066_s20 10 rs805687
dbSNP Clinvar
105791929 100.0 C G PASS 0/1 43 None None None 0.22883 0.22880 0.23193 None None None None None None COL17A1|0.220252717|34.39%
View 12066_s20 10 rs2256455
dbSNP Clinvar
33219008 100.0 T G PASS 0/1 50 None None None 0.48443 0.48440 0.47221 None None None None None None ITGB1|0.816912657|5.38%
View 12066_s20 10 rs805696
dbSNP Clinvar
105816685 100.0 T C PASS 0/1 59 None None None 0.89717 0.89720 0.05422 None None None None None None COL17A1|0.220252717|34.39%
View 12066_s20 10 rs58265388
dbSNP Clinvar
33215061 100.0 A T PASS 0/1 46 None None None 0.05491 0.05491 0.05251 None None None None None None ITGB1|0.816912657|5.38%
View 12066_s20 10 rs1747677
dbSNP Clinvar
105815241 100.0 A C PASS 0/1 27 None None None 0.63259 0.63260 0.41021 None None None None None None COL17A1|0.220252717|34.39%
View 12066_s20 10 rs372506043
dbSNP Clinvar
105815202 94.0 T TCACA R5x9 0/1 26 None None None None None None None None None COL17A1|0.220252717|34.39%
View 12066_s20 10 rs805691
dbSNP Clinvar
105814826 100.0 C A PASS 0/1 44 None None None 0.55292 0.55290 0.41327 None None None None None None COL17A1|0.220252717|34.39%
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