+ Filter Options

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 3

Genes:
COL5A1, GSN, TLN1,

+ Genes associated with diseases 2

Genes at Omim

COL5A1, GSN,
COL5A1 Ehlers-Danlos syndrome, classic type, 1, 130000 (3)
GSN Amyloidosis, Finnish type, 105120 (3)

Genes at Clinical Genomics Database

COL5A1, GSN,
COL5A1 Ehlers-Danlos syndrome, type I
Ehlers-Danlos syndrome, type II
GSN Amyloidosis, Finnish type

Genes at HGMD

Summary

Number of Variants: 29
Number of Genes: 3

Export to: CSV
  • Page 1 of 1

COL5A1
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 17503_s31 9 rs145178917
dbSNP Clinvar 		137591855 100.0 G T PASS 0/1 47 NON_SYNONYMOUS_CODING MODERATE None 0.00739 0.00739 0.00008 0.00 0.91 None None None None None None COL5A1|0.207487878|35.85%
View 17503_s31 9 rs3124299
dbSNP Clinvar 		137619195 100.0 C T PASS 1/1 37 SYNONYMOUS_CODING LOW None 0.34265 0.34270 0.33215 None None None None None None COL5A1|0.207487878|35.85%

GSN
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 17503_s31 9 rs2230287
dbSNP Clinvar 		124065224 100.0 G A PASS 1/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.08327 0.08327 0.01476 0.00 1.00 None None None None None None GSN|0.728577212|7.7%

TLN1
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 17503_s31 9 rs10814270
dbSNP Clinvar 		35704150 100.0 C T PASS 0/1 37 SYNONYMOUS_CODING LOW None 0.11701 0.11700 0.04167 None None None None None None TLN1|0.598640538|11.8%
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 17503_s31 9 rs4072883
dbSNP Clinvar 		137686906 100.0 C T PASS 1/1 68 None None None 0.69169 0.69170 0.34015 None None None None None None COL5A1|0.207487878|35.85%
View 17503_s31 9 rs10776900
dbSNP Clinvar 		137660375 100.0 A G PASS 0/1 25 None None None 0.45387 0.45390 0.37692 None None None None None None COL5A1|0.207487878|35.85%
View 17503_s31 9 rs4842162
dbSNP Clinvar 		137660194 100.0 G T PASS 0/1 25 None None None 0.45567 0.45570 0.37889 None None None None None None COL5A1|0.207487878|35.85%
View 17503_s31 9 rs7040856
dbSNP Clinvar 		137655430 100.0 C T PASS 0/1 60 None None None 0.20986 0.20990 None None None None None None COL5A1|0.207487878|35.85%
View 17503_s31 9 rs10858278
dbSNP Clinvar 		137653736 100.0 C A PASS 0/1 70 None None None 0.21006 0.21010 0.12264 None None None None None None COL5A1|0.207487878|35.85%
View 17503_s31 9 rs11103508
dbSNP Clinvar 		137653717 100.0 A C PASS 0/1 69 None None None 0.20947 0.20950 0.10885 None None None None None None COL5A1|0.207487878|35.85%
View 17503_s31 9 rs73558067
dbSNP Clinvar 		137645662 100.0 C T PASS 0/1 45 None None None 0.20907 0.20910 0.20978 None None None None None None COL5A1|0.207487878|35.85%
View 17503_s31 9 rs3124310
dbSNP Clinvar 		137623601 100.0 C G PASS 1/1 32 None None None 0.70807 0.70810 None None None None None None COL5A1|0.207487878|35.85%
View 17503_s31 9 rs3109675
dbSNP Clinvar 		137623555 100.0 T C PASS 1/1 30 None None None 0.41933 0.41930 0.37982 None None None None None None COL5A1|0.207487878|35.85%
View 17503_s31 9 rs3128598
dbSNP Clinvar 		137622039 100.0 G A PASS 1/1 43 None None None 0.40875 0.40870 0.37098 None None None None None None COL5A1|0.207487878|35.85%
View 17503_s31 9 rs3124308
dbSNP Clinvar 		137622033 100.0 A G PASS 1/1 44 None None None 0.40815 0.40810 0.37142 None None None None None None COL5A1|0.207487878|35.85%
View 17503_s31 9 rs3124302
dbSNP Clinvar 		137620474 100.0 C T PASS 1/1 86 None None None 0.40895 0.40890 0.37137 None None None None None None COL5A1|0.207487878|35.85%
View 17503_s31 9 rs3124298
dbSNP Clinvar 		137618970 100.0 G A PASS 1/1 70 None None None 0.37660 0.37660 None None None None None None COL5A1|0.207487878|35.85%
View 17503_s31 9 rs374979485
dbSNP Clinvar 		137533997 100.0 G A PASS 0/1 34 None None None 0.01298 0.01298 None None None None None None COL5A1|0.207487878|35.85%
View 17503_s31 9 rs306769
dbSNP Clinvar 		124088768 100.0 T C PASS 1/1 34 None None None 0.90535 0.90540 0.16385 None None None None None None GSN|0.728577212|7.7%
View 17503_s31 9 rs306785
dbSNP Clinvar 		124073176 100.0 T C PASS 1/1 59 None None None 0.88898 0.88900 None None None None None None GSN|0.728577212|7.7%
View 17503_s31 9 rs12343736
dbSNP Clinvar 		124048461 100.0 T C PASS 1/1 30 None None None 0.10683 0.10680 None None None None None None GSN|0.728577212|7.7%
View 17503_s31 9 rs877365
dbSNP Clinvar 		35713181 100.0 C T PASS 0/1 51 None None None 0.40435 0.40440 0.37006 None None None None None None TLN1|0.598640538|11.8%
View 17503_s31 9 rs2249133
dbSNP Clinvar 		35712823 100.0 G A PASS 0/1 35 None None None 0.56550 0.56550 0.39807 None None None None None None TLN1|0.598640538|11.8%
View 17503_s31 9 rs2249250
dbSNP Clinvar 		35711806 100.0 G T PASS 0/1 68 None None None 0.62460 0.62460 0.37583 None None None None None None TLN1|0.598640538|11.8%
View 17503_s31 9 rs7868111
dbSNP Clinvar 		137717610 100.0 T C PASS 0/1 52 None None None 0.74601 0.74600 0.28802 None None None None None None COL5A1|0.207487878|35.85%
View 17503_s31 9 rs2295794
dbSNP Clinvar 		35700150 100.0 C T PASS 0/1 61 None None None 0.40535 0.40540 0.37183 None None None None None None TLN1|0.598640538|11.8%
View 17503_s31 9 rs3827849
dbSNP Clinvar 		137702209 100.0 G A PASS 0/1 10 None None None 0.43411 0.43410 0.49408 None None None None None None COL5A1|0.207487878|35.85%
View 17503_s31 9 rs3827850
dbSNP Clinvar 		137702200 100.0 G C PASS 0/1 10 None None None 0.45288 0.45290 0.48698 None None None None None None COL5A1|0.207487878|35.85%
View 17503_s31 9 rs4072882
dbSNP Clinvar 		137687038 100.0 A G PASS 1/1 95 None None None 0.69389 0.69390 0.34385 None None None None None None COL5A1|0.207487878|35.85%
  • Page 1 of 1