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 CHR:

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VARIANT EFFECT FUNCTIONAL CLASS IMPACT
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EXCLUDE VARIANTS AT VARISNP 		READ DEPTH:

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SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
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EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP 		ESP6500 FREQUENCY

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EXCLUDE VARIANTS WITHOUT SIFT SCORE 		POLYPHEN2 SCORE

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CADD

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+ Genes 2

Genes:
DSE, TNXB,

+ Genes associated with diseases 2

Genes at Omim

DSE, TNXB,
DSE Ehlers-Danlos syndrome, musculocontractural type 2, 615539 (3)
TNXB Ehlers-Danlos syndrome, classic-like, 1 606408 (3)
Vesicoureteral reflux 8, 615963 (3)

Genes at Clinical Genomics Database

DSE, TNXB,
DSE Ehlers-Danlos syndrome, musculocontractural type 2
TNXB Vesicoureteral reflux 8
Ehlers-Danlos syndrome, autosomal recessive, due to tenascin X deficiency

Genes at HGMD

Summary

Number of Variants: 18
Number of Genes: 2

Export to: CSV
  • Page 1 of 1

DSE
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 tsvc_variants_ionxpress_032 6 rs41313440
dbSNP Clinvar 		116756773 675.49 T C PASS 0/1 264 NON_SYNONYMOUS_CODING MODERATE None 0.02037 0.02037 0.04852 0.84 0.03 None None None None None None DSE|0.823278071|5.23%
View tsvc_variants_ionxpress_032 6 rs560644
dbSNP Clinvar 		116757557 3694.68 T C PASS 1/1 370 SYNONYMOUS_CODING LOW None 0.97604 0.97600 0.05021 None None None None None None DSE|0.823278071|5.23%

TNXB
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 tsvc_variants_ionxpress_032 6 rs757178741
dbSNP Clinvar 		32029356 258.71 C T PASS 0/1 83 NON_SYNONYMOUS_CODING MODERATE None 0.40 0.01 None None None None None None TNXB|0.058348166|60.32%
View tsvc_variants_ionxpress_032 6 rs564152667
dbSNP Clinvar 		32029340 13.5828 G A PASS 0/1 18 SYNONYMOUS_CODING LOW None 0.00020 0.00020 None None None None None None TNXB|0.058348166|60.32%
View tsvc_variants_ionxpress_032 6 rs1009382
dbSNP Clinvar 		32026107 212.563 C T PASS 0/1 74 NON_SYNONYMOUS_CODING MODERATE None 0.69609 0.69610 0.31440 1.00 0.00 None None None None None None TNXB|0.058348166|60.32%
View tsvc_variants_ionxpress_032 6 rs204886
dbSNP Clinvar 		32029415 846.661 T C PASS 1/1 94 SYNONYMOUS_CODING LOW None 0.59864 0.59860 None None None None None None TNXB|0.058348166|60.32%
View tsvc_variants_ionxpress_032 6 rs204883
dbSNP Clinvar 		32032743 2073.91 G A PASS 0/1 858 SYNONYMOUS_CODING LOW None 0.39876 0.39880 0.35846 None None None None None None TNXB|0.058348166|60.32%
View tsvc_variants_ionxpress_032 6 rs185819
dbSNP Clinvar 		32050067 1129.17 T C PASS 0/1 511 NON_SYNONYMOUS_CODING MODERATE None 0.58626 0.58630 0.47712 1.00 0.00 None None None None None None TNXB|0.058348166|60.32%
View tsvc_variants_ionxpress_032 6 . 32065862 10.8004 C G PASS 0/1 276 SYNONYMOUS_CODING LOW None None None None None None None TNXB|0.058348166|60.32%
View tsvc_variants_ionxpress_032 6 rs17421133
dbSNP Clinvar 		32010272 733.057 T A PASS 0/1 354 NON_SYNONYMOUS_CODING MODERATE None 0.21705 0.21710 0.22927 0.00 0.00 None None None None None None TNXB|0.058348166|60.32%
View tsvc_variants_ionxpress_032 6 rs758424441
dbSNP Clinvar 		32012997 29.1174 G A PASS 0/1 81 SYNONYMOUS_CODING LOW None None None None None None None TNXB|0.058348166|60.32%
View tsvc_variants_ionxpress_032 6 rs760906844
dbSNP Clinvar 		32023794 46.364 G A PASS 0/1 33 SYNONYMOUS_CODING LOW None None None None None None None TNXB|0.058348166|60.32%
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 tsvc_variants_ionxpress_032 6 rs28361039
dbSNP Clinvar 		31978746 887.56 G A PASS 0/1 1052 None None None 0.70367 0.70370 None None None None None None None
View tsvc_variants_ionxpress_032 6 rs28585492
dbSNP Clinvar 		31978755 4359.98 A G PASS 0/1 1054 None None None 0.00280 0.07668 0.03675 None None None None None None None
View tsvc_variants_ionxpress_032 6 rs79770049
dbSNP Clinvar 		31977493 892.089 C T PASS 0/1 210 None None None 0.21945 0.21940 None None None None None None None
View tsvc_variants_ionxpress_032 6 rs6457477
dbSNP Clinvar 		31977391 2025.6 C T PASS 1/1 204 None None None 0.80491 0.80490 None None None None None None None
View tsvc_variants_ionxpress_032 6 rs2239689
dbSNP Clinvar 		32030284 986.354 G A PASS 0/1 443 None None None 0.21845 0.21850 None None None None None None TNXB|0.058348166|60.32%
View tsvc_variants_ionxpress_032 6 rs574278
dbSNP Clinvar 		116754456 3023.74 G T PASS 1/1 309 None None None 0.58307 0.58310 0.30362 None None None None None None DSE|0.823278071|5.23%
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