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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

COL4A1, COL4A2,
COL4A1 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 (3)
Brain small vessel disease with or without ocular anomalies, 175780 (3)
{Hemorrhage, intracerebral, susceptibility to}, 614519 (3)
Schizencephaly, 269160 (3)
?Retinal arteries, tortuosity of, 180000 (3)
COL4A2 Brain small vessel disease 2, 614483 (3)
{Hemorrhage, intracerebral, susceptibility to}, 614519 (3)

Genes at Clinical Genomics Database

COL4A1, COL4A2,
COL4A1 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps
Brain small vessel disease with or without ocular anomalies
Anterior segment dysgenesis with cerebral involvement
Porencephaly 1
Retinal artery tortuosity
Schizencephaly
COL4A2 Hemorrhage, intracerebral, susceptibility to

Genes at HGMD

Summary

Number of Variants: 96
Number of Genes: 3

Export to: CSV
  • Page 1 of 1

COL4A1

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 12030_s5 13 rs1373744
dbSNP Clinvar
110843985 100.0 T C PASS 1/1 99 None None None 0.91613 0.91610 None None None None None None COL4A1|0.224151486|33.94%
View 12030_s5 13 rs536174
dbSNP Clinvar
110839550 100.0 T G PASS 1/1 49 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00 None None None None None None COL4A1|0.224151486|33.94%
View 12030_s5 13 rs146480068
dbSNP Clinvar
110839512 100.0 C T PASS 0/1 49 SYNONYMOUS_CODING LOW None 0.00359 0.00359 0.00461 None None None None None None COL4A1|0.224151486|33.94%
View 12030_s5 13 rs16975492
dbSNP Clinvar
110833702 100.0 C T PASS 0/1 51 SYNONYMOUS_CODING LOW None 0.30711 0.30710 0.32162 None None None None None None COL4A1|0.224151486|33.94%
View 12030_s5 13 rs874204
dbSNP Clinvar
110827580 100.0 C T PASS 0/1 56 SYNONYMOUS_CODING LOW None 0.31809 0.31810 0.33592 None None None None None None COL4A1|0.224151486|33.94%
View 12030_s5 13 rs874203
dbSNP Clinvar
110827574 100.0 T A PASS 0/1 56 SYNONYMOUS_CODING LOW None 0.31789 0.31790 0.33592 None None None None None None COL4A1|0.224151486|33.94%
View 12030_s5 13 rs1133219
dbSNP Clinvar
110813709 100.0 G A PASS 0/1 43 SYNONYMOUS_CODING LOW None 0.30791 0.30790 0.35676 None None None None None None COL4A1|0.224151486|33.94%
View 12030_s5 13 rs650724
dbSNP Clinvar
110804809 100.0 G A PASS 0/1 35 SYNONYMOUS_CODING LOW None 0.12660 0.12660 0.13394 None None None None None None COL4A1|0.224151486|33.94%
View 12030_s5 13 rs16975612
dbSNP Clinvar
110862527 100.0 G A PASS 0/1 47 SYNONYMOUS_CODING LOW None 0.01717 0.01717 0.01799 None None None None None None COL4A1|0.224151486|33.94%

COL4A2

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 12030_s5 13 rs4238272
dbSNP Clinvar
111077197 100.0 G A PASS 1/1 32 SYNONYMOUS_CODING LOW None 0.94269 0.94270 0.06729 None None None None None None COL4A2|0.044971251|64.22%
View 12030_s5 13 rs7990214
dbSNP Clinvar
111111173 100.0 G A PASS 1/1 19 SYNONYMOUS_CODING LOW None 0.49141 0.49140 0.37904 None None None None None None COL4A2|0.044971251|64.22%
View 12030_s5 13 rs439831
dbSNP Clinvar
111154058 100.0 T A PASS 0/1 69 SYNONYMOUS_CODING LOW None 0.93950 0.93950 0.05156 None None None None None None COL4A2|0.044971251|64.22%
View 12030_s5 13 rs445348
dbSNP Clinvar
111158874 100.0 A G PASS 0/1 38 SYNONYMOUS_CODING LOW None 0.75200 0.75200 0.12908 None None None None None None COL4A2|0.044971251|64.22%
View 12030_s5 13 rs4771683
dbSNP Clinvar
111156499 100.0 C T PASS 0/1 21 SYNONYMOUS_CODING LOW None 0.93590 0.93590 0.05438 None None None None None None COL4A2|0.044971251|64.22%
View 12030_s5 13 rs409858
dbSNP Clinvar
111154061 100.0 T C PASS 0/1 69 SYNONYMOUS_CODING LOW None 0.93950 0.93950 0.05167 None None None None None None COL4A2|0.044971251|64.22%
View 12030_s5 13 rs9583500
dbSNP Clinvar
111121620 100.0 C T PASS 1/1 66 NON_SYNONYMOUS_CODING MODERATE None 0.19090 0.19090 0.23106 0.70 0.10 None None None None None None COL4A2|0.044971251|64.22%
View 12030_s5 13 rs7990383
dbSNP Clinvar
111111235 100.0 G A PASS 1/1 20 NON_SYNONYMOUS_CODING MODERATE None 0.50919 0.50920 0.36542 0.99 0.00 None None None None None None COL4A2|0.044971251|64.22%
View 12030_s5 13 rs438758
dbSNP Clinvar
111155773 100.0 T C PASS 1/1 22 SYNONYMOUS_CODING LOW None 0.98023 0.98020 0.01286 None None None None None None COL4A2|0.044971251|64.22%
View 12030_s5 13 rs147765396
dbSNP Clinvar
111098229 100.0 G A PASS 0/1 49 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.00779 0.00779 0.00731 None None None None None None COL4A2|0.044971251|64.22%

DOCK9

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 12030_s5 13 rs12428661
dbSNP Clinvar
99575568 100.0 G A PASS 0/1 45 SYNONYMOUS_CODING LOW None 0.00040 0.16750 0.13827 None None None None None None DOCK9|0.3175759|26.27%
View 12030_s5 13 rs2296984
dbSNP Clinvar
99457431 100.0 T G PASS 0/1 99 SYNONYMOUS_CODING LOW None 0.20587 0.20590 0.19774 None None None None None None DOCK9|0.3175759|26.27%
View 12030_s5 13 rs16956053
dbSNP Clinvar
99566594 100.0 C T PASS 0/1 46 SYNONYMOUS_CODING LOW None 0.03614 0.03614 0.03321 None None None None None None DOCK9|0.3175759|26.27%
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 12030_s5 13 rs7983979
dbSNP Clinvar
111091024 100.0 C T PASS 1/1 23 None None None 0.09824 0.09824 0.07644 None None None None None None COL4A2|0.044971251|64.22%
View 12030_s5 13 rs7984100
dbSNP Clinvar
111090924 100.0 G A PASS 1/1 23 None None None 0.00559 0.31290 0.36009 None None None None None None COL4A2|0.044971251|64.22%
View 12030_s5 13 rs7984937
dbSNP Clinvar
111090909 100.0 T C PASS 1/1 23 None None None 0.31849 0.31850 0.37000 None None None None None None COL4A2|0.044971251|64.22%
View 12030_s5 13 rs3929758
dbSNP Clinvar
111082157 100.0 C A PASS 1/1 21 None None None 0.73582 0.73580 None None None None None None COL4A2|0.044971251|64.22%
View 12030_s5 13 . 111076987 100.0 CA C R5x9 0/1 44 None None None None None None None None None COL4A2|0.044971251|64.22%
View 12030_s5 13 rs4771678
dbSNP Clinvar
111076940 100.0 T C PASS 1/1 44 None None None 0.73103 0.73100 None None None None None None COL4A2|0.044971251|64.22%
View 12030_s5 13 rs74124101
dbSNP Clinvar
110960372 100.0 C T PASS 0/1 150 None None None 0.01777 0.01777 0.01740 None None None None None None COL4A2|0.044971251|64.22%
View 12030_s5 13 rs9521650
dbSNP Clinvar
110866265 100.0 G A PASS 1/1 18 None None None 0.13039 0.13040 0.13394 None None None None None None COL4A1|0.224151486|33.94%
View 12030_s5 13 rs3737328
dbSNP Clinvar
110866065 100.0 C T PASS 1/1 18 None None None 0.22644 0.22640 0.23149 None None None None None None COL4A1|0.224151486|33.94%
View 12030_s5 13 rs552453147
dbSNP Clinvar
110866026 100.0 T C PASS 0/1 19 None None None 0.00240 0.00240 None None None None None None COL4A1|0.224151486|33.94%
View 12030_s5 13 . 110865961 100.0 AC GT PASS 1/1 19 None None None None None None None None None COL4A1|0.224151486|33.94%
View 12030_s5 13 rs645114
dbSNP Clinvar
110861785 100.0 C G PASS 0/1 125 None None None 0.86122 0.86120 0.14992 None None None None None None COL4A1|0.224151486|33.94%
View 12030_s5 13 rs598893
dbSNP Clinvar
110859743 100.0 C T PASS 0/1 49 None None None 0.59605 0.59600 0.43134 None None None None None None COL4A1|0.224151486|33.94%
View 12030_s5 13 rs598819
dbSNP Clinvar
110859690 100.0 A G PASS 0/1 49 None None None 0.98183 0.98180 None None None None None None COL4A1|0.224151486|33.94%
View 12030_s5 13 rs677877
dbSNP Clinvar
110857895 100.0 A G PASS 0/1 21 None None None 0.59645 0.59640 0.42988 None None None None None None COL4A1|0.224151486|33.94%
View 12030_s5 13 rs482757
dbSNP Clinvar
110857823 100.0 C T PASS 0/1 79 None None None 0.59345 0.59350 0.43142 None None None None None None COL4A1|0.224151486|33.94%
View 12030_s5 13 rs16975589
dbSNP Clinvar
110855768 100.0 G A PASS 0/1 53 None None None 0.01038 0.01038 None None None None None None COL4A1|0.224151486|33.94%
View 12030_s5 13 rs496916
dbSNP Clinvar
110851014 100.0 G C PASS 0/1 45 None None None 0.38858 0.38860 0.34043 None None None None None None COL4A1|0.224151486|33.94%
View 12030_s5 13 rs683309
dbSNP Clinvar
110850770 100.0 T C PASS 1/1 67 None None None 0.90136 0.90140 0.13253 None None None None None None COL4A1|0.224151486|33.94%
View 12030_s5 13 rs111757791
dbSNP Clinvar
110847283 100.0 C T PASS 0/1 22 None None None 0.02716 0.02716 None None None None None None COL4A1|0.224151486|33.94%
View 12030_s5 13 rs685884
dbSNP Clinvar
110845314 100.0 G A PASS 1/1 67 None None None 0.75399 0.75400 0.29347 None None None None None None COL4A1|0.224151486|33.94%
View 12030_s5 13 rs2241967
dbSNP Clinvar
110844721 100.0 C T PASS 0/1 19 None None None 0.43171 0.43170 None None None None None None COL4A1|0.224151486|33.94%
View 12030_s5 13 rs2305080
dbSNP Clinvar
110838703 100.0 T C PASS 0/1 23 None None None 0.36062 0.36060 0.34952 None None None None None None COL4A1|0.224151486|33.94%
View 12030_s5 13 rs72654112
dbSNP Clinvar
110835460 100.0 C T PASS 0/1 20 None None None 0.08167 0.08167 0.10529 None None None None None None COL4A1|0.224151486|33.94%
View 12030_s5 13 rs16975491
dbSNP Clinvar
110833564 100.0 C T PASS 0/1 54 None None None 0.32129 0.32130 None None None None None None COL4A1|0.224151486|33.94%
View 12030_s5 13 rs503053
dbSNP Clinvar
110831451 100.0 T C PASS 0/1 39 None None None 0.39836 0.39840 None None None None None None COL4A1|0.224151486|33.94%
View 12030_s5 13 rs1562173
dbSNP Clinvar
110828922 100.0 G A PASS 0/1 33 None None None 0.31969 0.31970 0.33569 None None None None None None COL4A1|0.224151486|33.94%
View 12030_s5 13 rs1975514
dbSNP Clinvar
110828891 100.0 T C PASS 0/1 104 None None None 0.32029 0.32030 0.33608 None None None None None None COL4A1|0.224151486|33.94%
View 12030_s5 13 rs589985
dbSNP Clinvar
110819586 100.0 G A PASS 1/1 73 None None None 0.65535 0.65540 0.37321 None None None None None None COL4A1|0.224151486|33.94%
View 12030_s5 13 rs1778817
dbSNP Clinvar
110819460 100.0 G A PASS 1/1 71 None None None 0.62700 0.62700 0.39021 None None None None None None COL4A1|0.224151486|33.94%
View 12030_s5 13 rs652572
dbSNP Clinvar
110819457 100.0 A G PASS 1/1 73 None None None 0.58706 0.58710 0.42673 None None None None None None COL4A1|0.224151486|33.94%
View 12030_s5 13 rs617111
dbSNP Clinvar
110807776 100.0 C T PASS 0/1 27 None None None 0.08966 0.08966 0.08544 None None None None None None COL4A1|0.224151486|33.94%
View 12030_s5 13 rs8002389
dbSNP Clinvar
99607911 100.0 A G PASS 0/1 19 None None None 0.44269 0.44270 None None None None None None DOCK9|0.3175759|26.27%
View 12030_s5 13 rs12429249
dbSNP Clinvar
99578219 100.0 C T PASS 0/1 26 None None None 0.16653 0.16650 0.13576 None None None None None None DOCK9|0.3175759|26.27%
View 12030_s5 13 rs41279134
dbSNP Clinvar
99566730 100.0 C T PASS 0/1 46 None None None 0.15575 0.15580 None None None None None None DOCK9|0.3175759|26.27%
View 12030_s5 13 rs35240640,rs539827424,rs398077527,rs398037825
dbSNP Clinvar
99555187 100.0 AT A PASS 0/1 16 None None None 0.71870 None None None None None None DOCK9|0.3175759|26.27%
View 12030_s5 13 rs3737023
dbSNP Clinvar
99540406 100.0 A C PASS 0/1 51 None None None 0.19649 0.19650 0.14406 None None None None None None DOCK9|0.3175759|26.27%
View 12030_s5 13 . 99540394 100.0 TA CG PASS 0/1 51 None None None None None None None None None DOCK9|0.3175759|26.27%
View 12030_s5 13 rs2296998
dbSNP Clinvar
99537942 100.0 G T PASS 0/1 26 None None None 0.15435 0.15440 0.10878 None None None None None None DOCK9|0.3175759|26.27%
View 12030_s5 13 rs11411440,rs397934607
dbSNP Clinvar
99537790 84.0 T TA R5x9 0/1 22 None None None 0.48982 0.48980 None None None None None None DOCK9|0.3175759|26.27%
View 12030_s5 13 rs2274642
dbSNP Clinvar
99537217 100.0 G T PASS 0/1 60 None None None 0.67213 0.67210 0.27182 None None None None None None DOCK9|0.3175759|26.27%
View 12030_s5 13 rs2274641
dbSNP Clinvar
99537202 100.0 C A PASS 0/1 63 None None None 0.67871 0.67870 0.27641 None None None None None None DOCK9|0.3175759|26.27%
View 12030_s5 13 rs2296997
dbSNP Clinvar
99536220 100.0 A G PASS 0/1 22 None None None 0.66753 0.66750 None None None None None None DOCK9|0.3175759|26.27%
View 12030_s5 13 rs2296996
dbSNP Clinvar
99536215 100.0 C T PASS 0/1 22 None None None 0.62680 0.62680 None None None None None None DOCK9|0.3175759|26.27%
View 12030_s5 13 rs9517474
dbSNP Clinvar
99536031 100.0 G A PASS 0/1 22 None None None 0.67832 0.67830 0.27615 None None None None None None DOCK9|0.3175759|26.27%
View 12030_s5 13 rs2296994
dbSNP Clinvar
99533897 100.0 G A PASS 0/1 78 None None None 0.15096 0.15100 0.10661 None None None None None None DOCK9|0.3175759|26.27%
View 12030_s5 13 rs9557078
dbSNP Clinvar
99459891 100.0 A C PASS 1/1 17 None None None 0.43011 0.43010 0.39937 None None None None None None DOCK9|0.3175759|26.27%
View 12030_s5 13 rs2296983
dbSNP Clinvar
99457161 100.0 G C PASS 0/1 23 None None None 0.37979 0.37980 None None None None None None DOCK9|0.3175759|26.27%
View 12030_s5 13 rs1289315
dbSNP Clinvar
99449755 100.0 G A PASS 0/1 38 None None None 0.51218 0.51220 0.39161 None None None None None None DOCK9|0.3175759|26.27%
View 12030_s5 13 rs1289314
dbSNP Clinvar
99449579 100.0 T C PASS 0/1 37 None None None 0.75040 0.75040 None None None None None None DOCK9|0.3175759|26.27%
View 12030_s5 13 rs9554522
dbSNP Clinvar
99448441 100.0 T A PASS 0/1 64 None None None 0.41454 0.41450 0.40748 None None None None None None DOCK9|0.3175759|26.27%
View 12030_s5 13 rs7316969
dbSNP Clinvar
111159054 91.0 G A PASS 0/1 28 None None None 0.95008 0.95010 None None None None None None COL4A2|0.044971251|64.22%
View 12030_s5 13 rs812808
dbSNP Clinvar
99447005 100.0 T C PASS 0/1 26 None None None 0.75559 0.75560 0.15847 None None None None None None DOCK9|0.3175759|26.27%
View 12030_s5 13 rs150396852
dbSNP Clinvar
111156453 100.0 G A PASS 0/1 21 None None None 0.00260 0.00260 0.00205 None None None None None None COL4A2|0.044971251|64.22%
View 12030_s5 13 rs414881
dbSNP Clinvar
111156411 100.0 G A PASS 1/1 31 None None None 0.47604 0.47600 None None None None None None COL4A2|0.044971251|64.22%
View 12030_s5 13 rs401316
dbSNP Clinvar
111155428 100.0 C T PASS 1/1 42 None None None 1.00000 1.00000 None None None None None None COL4A2|0.044971251|64.22%
View 12030_s5 13 rs2281968
dbSNP Clinvar
111154160 100.0 G A PASS 0/1 27 None None None 0.50839 0.50840 0.42022 None None None None None None COL4A2|0.044971251|64.22%
View 12030_s5 13 rs912946
dbSNP Clinvar
111147846 100.0 G A PASS 0/1 51 None None None 0.08247 0.08247 0.10715 None None None None None None COL4A2|0.044971251|64.22%
View 12030_s5 13 rs421177
dbSNP Clinvar
111144565 100.0 C T PASS 0/1 28 None None None 0.20986 0.20990 0.13531 None None None None None None COL4A2|0.044971251|64.22%
View 12030_s5 13 rs413756
dbSNP Clinvar
111143755 100.0 T C PASS 0/1 32 None None None 0.71805 0.71810 None None None None None None COL4A2|0.044971251|64.22%
View 12030_s5 13 rs200830236
dbSNP Clinvar
111143700 100.0 G A PASS 0/1 32 None None None 0.00180 0.00180 0.00220 None None None None None None COL4A2|0.044971251|64.22%
View 12030_s5 13 rs1983930
dbSNP Clinvar
111137167 100.0 T C PASS 1/1 64 None None None 0.99661 0.99660 None None None None None None COL4A2|0.044971251|64.22%
View 12030_s5 13 rs116320888
dbSNP Clinvar
111137117 100.0 G A PASS 0/1 63 None None None 0.03235 0.03235 None None None None None None COL4A2|0.044971251|64.22%
View 12030_s5 13 rs3803228
dbSNP Clinvar
111134858 100.0 T C PASS 0/1 14 None None None 0.19090 0.19090 0.19202 None None None None None None COL4A2|0.044971251|64.22%
View 12030_s5 13 rs9559818
dbSNP Clinvar
111130226 100.0 G A PASS 0/1 20 None None None 0.43590 0.43590 None None None None None None COL4A2|0.044971251|64.22%
View 12030_s5 13 rs9515229
dbSNP Clinvar
111121717 100.0 A G PASS 1/1 66 None None None 0.52576 0.52580 0.35184 None None None None None None COL4A2|0.044971251|64.22%
View 12030_s5 13 rs3803232
dbSNP Clinvar
111119296 100.0 A G PASS 1/1 24 None None None 0.53235 0.53230 None None None None None None COL4A2|0.044971251|64.22%
View 12030_s5 13 rs3803236
dbSNP Clinvar
111117745 100.0 C T PASS 1/1 29 None None None 0.51398 0.51400 0.38680 None None None None None None COL4A2|0.044971251|64.22%
View 12030_s5 13 rs73619501
dbSNP Clinvar
111117696 100.0 G A PASS 0/1 29 None None None 0.01378 0.01378 None None None None None None COL4A2|0.044971251|64.22%
View 12030_s5 13 rs3803237
dbSNP Clinvar
111117668 100.0 G A PASS 0/1 29 None None None 0.15435 0.15440 None None None None None None COL4A2|0.044971251|64.22%
View 12030_s5 13 rs41275110
dbSNP Clinvar
111114554 100.0 G A PASS 0/1 90 None None None 0.16214 0.16210 0.19889 None None None None None None COL4A2|0.044971251|64.22%
View 12030_s5 13 rs4773186
dbSNP Clinvar
111111382 100.0 G A PASS 1/1 33 None None None 0.70088 0.70090 None None None None None None COL4A2|0.044971251|64.22%
View 12030_s5 13 rs7326449
dbSNP Clinvar
111099122 100.0 G A PASS 1/1 35 None None None 0.68890 0.68890 0.23115 None None None None None None COL4A2|0.044971251|64.22%
View 12030_s5 13 rs7988186
dbSNP Clinvar
111098338 100.0 A T PASS 1/1 48 None None None 0.99121 0.99120 None None None None None None COL4A2|0.044971251|64.22%
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