SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

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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
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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: 54
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 6426_s21 9 rs41306391
dbSNP Clinvar
137622249 100.0 C T PASS 0/1 47 SYNONYMOUS_CODING LOW None 0.10184 0.10180 0.08158 None None None None None None COL5A1|0.207487878|35.85%
View 6426_s21 9 rs3124299
dbSNP Clinvar
137619195 100.0 C T PASS 0/1 45 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 6426_s21 9 rs2304393
dbSNP Clinvar
124083614 100.0 C T PASS 0/1 62 SYNONYMOUS_CODING LOW None 0.08546 0.08546 0.05321 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 6426_s21 9 rs28664652
dbSNP Clinvar
35706334 100.0 C T PASS 0/1 111 SYNONYMOUS_CODING LOW None 0.02636 0.02636 0.03037 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 6426_s21 9 rs10858283
dbSNP Clinvar
137708973 100.0 A G PASS 0/1 36 None None None 0.46106 0.46110 0.48931 None None None None None None COL5A1|0.207487878|35.85%
View 6426_s21 9 rs10776910
dbSNP Clinvar
137708960 100.0 A C PASS 0/1 42 None None None 0.46166 0.46170 0.49001 None None None None None None COL5A1|0.207487878|35.85%
View 6426_s21 9 rs3811149
dbSNP Clinvar
137708803 100.0 A G PASS 0/1 46 None None None 0.59225 0.59230 0.35545 None None None None None None COL5A1|0.207487878|35.85%
View 6426_s21 9 rs113940604
dbSNP Clinvar
137705916 100.0 A G PASS 0/1 26 None None None 0.00879 0.00879 0.00971 None None None None None None COL5A1|0.207487878|35.85%
View 6426_s21 9 rs3827849
dbSNP Clinvar
137702209 100.0 G A PASS 0/1 36 None None None 0.43411 0.43410 0.49408 None None None None None None COL5A1|0.207487878|35.85%
View 6426_s21 9 rs3827850
dbSNP Clinvar
137702200 100.0 G C PASS 0/1 36 None None None 0.45288 0.45290 0.48698 None None None None None None COL5A1|0.207487878|35.85%
View 6426_s21 9 rs3811152
dbSNP Clinvar
137702059 100.0 G C PASS 0/1 36 None None None 0.24720 0.24720 0.23835 None None None None None None COL5A1|0.207487878|35.85%
View 6426_s21 9 rs4072882
dbSNP Clinvar
137687038 100.0 A G PASS 0/1 123 None None None 0.69389 0.69390 0.34385 None None None None None None COL5A1|0.207487878|35.85%
View 6426_s21 9 rs4072883
dbSNP Clinvar
137686906 100.0 C T PASS 0/1 81 None None None 0.69169 0.69170 0.34015 None None None None None None COL5A1|0.207487878|35.85%
View 6426_s21 9 rs45497895
dbSNP Clinvar
137677796 100.0 G A PASS 0/1 44 None None None 0.08387 0.08387 0.08463 None None None None None None COL5A1|0.207487878|35.85%
View 6426_s21 9 rs117948766
dbSNP Clinvar
137676802 100.0 T G PASS 0/1 60 None None None None None None None None None COL5A1|0.207487878|35.85%
View 6426_s21 9 . 137676801 100.0 G GG... PASS 0/1 62 None None None 0.14474 None None None None None None COL5A1|0.207487878|35.85%
View 6426_s21 9 . 137676795 100.0 CGG TGT PASS 0/1 65 None None None None None None None None None COL5A1|0.207487878|35.85%
View 6426_s21 9 rs41310213
dbSNP Clinvar
137674488 100.0 G A PASS 0/1 30 None None None 0.15296 0.15300 0.17038 None None None None None None COL5A1|0.207487878|35.85%
View 6426_s21 9 rs34489567
dbSNP Clinvar
137674391 100.0 A G PASS 0/1 31 None None None 0.15316 0.15320 0.16760 None None None None None None COL5A1|0.207487878|35.85%
View 6426_s21 9 rs59126004
dbSNP Clinvar
137674341 100.0 T C PASS 0/1 31 None None None 0.15116 0.15120 None None None None None None COL5A1|0.207487878|35.85%
View 6426_s21 9 rs3124932
dbSNP Clinvar
137672012 100.0 C T PASS 0/1 70 None None None 0.28794 0.28790 0.35876 None None None None None None COL5A1|0.207487878|35.85%
View 6426_s21 9 rs10776900
dbSNP Clinvar
137660375 100.0 A G PASS 0/1 36 None None None 0.45387 0.45390 0.37692 None None None None None None COL5A1|0.207487878|35.85%
View 6426_s21 9 rs4842162
dbSNP Clinvar
137660194 100.0 G T PASS 0/1 37 None None None 0.45567 0.45570 0.37889 None None None None None None COL5A1|0.207487878|35.85%
View 6426_s21 9 rs45622539
dbSNP Clinvar
137659236 100.0 C T PASS 0/1 39 None None None 0.03055 0.03055 0.02330 None None None None None None COL5A1|0.207487878|35.85%
View 6426_s21 9 rs77716946
dbSNP Clinvar
137653750 100.0 G C PASS 0/1 61 None None None 0.01118 0.01498 None None None None None None COL5A1|0.207487878|35.85%
View 6426_s21 9 rs73558067
dbSNP Clinvar
137645662 100.0 C T PASS 0/1 55 None None None 0.20907 0.20910 0.20978 None None None None None None COL5A1|0.207487878|35.85%
View 6426_s21 9 rs10123014
dbSNP Clinvar
137645648 100.0 T C PASS 0/1 55 None None None 0.25519 0.25520 0.15080 None None None None None None COL5A1|0.207487878|35.85%
View 6426_s21 9 rs73558066
dbSNP Clinvar
137645585 100.0 G A PASS 0/1 31 None None None 0.20507 0.20510 None None None None None None COL5A1|0.207487878|35.85%
View 6426_s21 9 . 137645538 100.0 CC GT PASS 0/1 30 None None None None None None None None None COL5A1|0.207487878|35.85%
View 6426_s21 9 rs12686426
dbSNP Clinvar
137642577 100.0 T C PASS 0/1 49 None None None 0.21026 0.21030 None None None None None None COL5A1|0.207487878|35.85%
View 6426_s21 9 rs12685946
dbSNP Clinvar
137642478 100.0 A G PASS 0/1 118 None None None 0.29952 0.29950 0.31040 None None None None None None COL5A1|0.207487878|35.85%
View 6426_s21 9 rs62574081
dbSNP Clinvar
137642477 100.0 C T PASS 0/1 116 None None None 0.03874 0.03874 0.08627 None None None None None None COL5A1|0.207487878|35.85%
View 6426_s21 9 rs3128612
dbSNP Clinvar
137630587 100.0 T C PASS 0/1 57 None None None 0.56929 0.56930 0.40866 None None None None None None COL5A1|0.207487878|35.85%
View 6426_s21 9 rs3109677
dbSNP Clinvar
137630568 100.0 C T PASS 0/1 57 None None None 0.56829 0.56830 0.40850 None None None None None None COL5A1|0.207487878|35.85%
View 6426_s21 9 rs3124310
dbSNP Clinvar
137623601 100.0 C G PASS 0/1 20 None None None 0.70807 0.70810 None None None None None None COL5A1|0.207487878|35.85%
View 6426_s21 9 rs3109675
dbSNP Clinvar
137623555 100.0 T C PASS 0/1 20 None None None 0.41933 0.41930 0.37982 None None None None None None COL5A1|0.207487878|35.85%
View 6426_s21 9 rs3128598
dbSNP Clinvar
137622039 100.0 G A PASS 0/1 45 None None None 0.40875 0.40870 0.37098 None None None None None None COL5A1|0.207487878|35.85%
View 6426_s21 9 rs3124308
dbSNP Clinvar
137622033 100.0 A G PASS 0/1 45 None None None 0.40815 0.40810 0.37142 None None None None None None COL5A1|0.207487878|35.85%
View 6426_s21 9 rs112243377
dbSNP Clinvar
137620688 100.0 C A PASS 0/1 48 None None None 0.01438 0.01438 0.02053 None None None None None None COL5A1|0.207487878|35.85%
View 6426_s21 9 rs3124302
dbSNP Clinvar
137620474 100.0 C T PASS 0/1 50 None None None 0.40895 0.40890 0.37137 None None None None None None COL5A1|0.207487878|35.85%
View 6426_s21 9 rs3124298
dbSNP Clinvar
137618970 100.0 G A PASS 0/1 102 None None None 0.37660 0.37660 None None None None None None COL5A1|0.207487878|35.85%
View 6426_s21 9 rs4341231
dbSNP Clinvar
137592961 100.0 T C PASS 1/1 54 None None None 0.62380 0.62380 None None None None None None COL5A1|0.207487878|35.85%
View 6426_s21 9 rs306771
dbSNP Clinvar
124091135 100.0 G A PASS 1/1 12 None None None 0.87001 0.87000 0.21229 None None None None None None GSN|0.728577212|7.7%
View 6426_s21 9 rs306769
dbSNP Clinvar
124088768 100.0 T C PASS 1/1 46 None None None 0.90535 0.90540 0.16385 None None None None None None GSN|0.728577212|7.7%
View 6426_s21 9 rs2304392
dbSNP Clinvar
124083420 100.0 G A PASS 0/1 102 None None None 0.09764 0.09764 None None None None None None GSN|0.728577212|7.7%
View 6426_s21 9 rs306785
dbSNP Clinvar
124073176 100.0 T C PASS 1/1 39 None None None 0.88898 0.88900 None None None None None None GSN|0.728577212|7.7%
View 6426_s21 9 rs73645470
dbSNP Clinvar
35718752 100.0 C T PASS 0/1 16 None None None 0.00759 0.00759 None None None None None None TLN1|0.598640538|11.8%
View 6426_s21 9 rs877365
dbSNP Clinvar
35713181 100.0 C T PASS 1/1 38 None None None 0.40435 0.40440 0.37006 None None None None None None TLN1|0.598640538|11.8%
View 6426_s21 9 rs2249250
dbSNP Clinvar
35711806 100.0 G T PASS 1/1 69 None None None 0.62460 0.62460 0.37583 None None None None None None TLN1|0.598640538|11.8%
View 6426_s21 9 rs7036997
dbSNP Clinvar
137714767 100.0 G C PASS 1/1 53 None None None 0.10344 0.10340 0.07928 None None None None None None COL5A1|0.207487878|35.85%
View 6426_s21 9 rs2295794
dbSNP Clinvar
35700150 100.0 C T PASS 1/1 76 None None None 0.40535 0.40540 0.37183 None None None None None None TLN1|0.598640538|11.8%
View 6426_s21 9 rs9697186
dbSNP Clinvar
137714027 100.0 T C PASS 0/1 52 None None None 0.60943 0.60940 0.33277 None None None None None None COL5A1|0.207487878|35.85%
View 6426_s21 9 rs3811147
dbSNP Clinvar
137711917 100.0 G A PASS 0/1 49 None None None 0.06290 0.06290 0.04406 None None None None None None COL5A1|0.207487878|35.85%
View 6426_s21 9 rs11792894
dbSNP Clinvar
137709780 100.0 T C PASS 0/1 84 None None None 0.58227 0.58230 None None None None None None COL5A1|0.207487878|35.85%
  • Page 1 of 1