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+ Genes 3

Genes:
COL4A1, COL4A2, DOCK9,

+ Genes associated with diseases 2

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: 98
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 6422_s23 13 rs536174
dbSNP Clinvar 		110839550 100.0 T G PASS 1/1 51 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00 None None None None None None COL4A1|0.224151486|33.94%
View 6422_s23 13 rs995224
dbSNP Clinvar 		110850842 100.0 A G PASS 1/1 100 SYNONYMOUS_CODING LOW None 0.20647 0.20650 0.25250 None None None None None None COL4A1|0.224151486|33.94%
View 6422_s23 13 rs9515185
dbSNP Clinvar 		110959356 100.0 C G PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.42412 0.42410 0.00 None None None None None None COL4A1|0.224151486|33.94%,COL4A2|0.044971251|64.22%
View 6422_s23 13 rs1133219
dbSNP Clinvar 		110813709 100.0 G A PASS 0/1 59 SYNONYMOUS_CODING LOW None 0.30791 0.30790 0.35676 None None None None None None COL4A1|0.224151486|33.94%
View 6422_s23 13 rs1373744
dbSNP Clinvar 		110843985 100.0 T C PASS 0/1 117 None None None 0.91613 0.91610 None None None None None None COL4A1|0.224151486|33.94%
View 6422_s23 13 rs650724
dbSNP Clinvar 		110804809 100.0 G A PASS 0/1 53 SYNONYMOUS_CODING LOW None 0.12660 0.12660 0.13394 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 6422_s23 13 rs438758
dbSNP Clinvar 		111155773 100.0 T C PASS 1/1 32 SYNONYMOUS_CODING LOW None 0.98023 0.98020 0.01286 None None None None None None COL4A2|0.044971251|64.22%
View 6422_s23 13 rs4238272
dbSNP Clinvar 		111077197 100.0 G A PASS 1/1 44 SYNONYMOUS_CODING LOW None 0.94269 0.94270 0.06729 None None None None None None COL4A2|0.044971251|64.22%
View 6422_s23 13 rs7990383
dbSNP Clinvar 		111111235 100.0 G A PASS 0/1 31 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 6422_s23 13 rs7990214
dbSNP Clinvar 		111111173 100.0 G A PASS 0/1 32 SYNONYMOUS_CODING LOW None 0.49141 0.49140 0.37904 None None None None None None COL4A2|0.044971251|64.22%
View 6422_s23 13 rs409858
dbSNP Clinvar 		111154061 100.0 T C PASS 1/1 131 SYNONYMOUS_CODING LOW None 0.93950 0.93950 0.05167 None None None None None None COL4A2|0.044971251|64.22%
View 6422_s23 13 rs74941798
dbSNP Clinvar 		111102126 100.0 C T PASS 0/1 83 SYNONYMOUS_CODING LOW None 0.24681 0.24680 0.28476 None None None None None None COL4A2|0.044971251|64.22%
View 6422_s23 13 rs439831
dbSNP Clinvar 		111154058 100.0 T A PASS 1/1 131 SYNONYMOUS_CODING LOW None 0.93950 0.93950 0.05156 None None None None None None COL4A2|0.044971251|64.22%
View 6422_s23 13 rs445348
dbSNP Clinvar 		111158874 100.0 A G PASS 1/1 65 SYNONYMOUS_CODING LOW None 0.75200 0.75200 0.12908 None None None None None None COL4A2|0.044971251|64.22%
View 6422_s23 13 rs4103
dbSNP Clinvar 		111098226 100.0 C T PASS 0/1 89 SYNONYMOUS_CODING LOW None 0.48283 0.48280 0.48987 None None None None None None COL4A2|0.044971251|64.22%
View 6422_s23 13 rs4771683
dbSNP Clinvar 		111156499 100.0 C T PASS 1/1 34 SYNONYMOUS_CODING LOW None 0.93590 0.93590 0.05438 None None None None None None COL4A2|0.044971251|64.22%
View 6422_s23 13 rs4773199
dbSNP Clinvar 		111155779 100.0 G A PASS 0/1 32 SYNONYMOUS_CODING LOW None 0.18630 0.18630 0.24198 None None None None None None COL4A2|0.044971251|64.22%
View 6422_s23 13 rs76425569
dbSNP Clinvar 		111102042 100.0 G A PASS 0/1 82 SYNONYMOUS_CODING LOW None 0.23862 0.23860 0.26285 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 6422_s23 13 rs9584956
dbSNP Clinvar 		99512774 100.0 A G PASS 0/1 97 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.08906 0.08906 0.05242 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 6422_s23 13 rs9515229
dbSNP Clinvar 		111121717 100.0 A G PASS 0/1 102 None None None 0.52576 0.52580 0.35184 None None None None None None COL4A2|0.044971251|64.22%
View 6422_s23 13 rs3803232
dbSNP Clinvar 		111119296 100.0 A G PASS 0/1 45 None None None 0.53235 0.53230 None None None None None None COL4A2|0.044971251|64.22%
View 6422_s23 13 rs3803236
dbSNP Clinvar 		111117745 100.0 C T PASS 0/1 53 None None None 0.51398 0.51400 0.38680 None None None None None None COL4A2|0.044971251|64.22%
View 6422_s23 13 rs7992330
dbSNP Clinvar 		111114751 100.0 G A PASS 0/1 42 None None None 0.16913 0.16910 0.23831 None None None None None None COL4A2|0.044971251|64.22%
View 6422_s23 13 rs4773186
dbSNP Clinvar 		111111382 100.0 G A PASS 0/1 48 None None None 0.70088 0.70090 None None None None None None COL4A2|0.044971251|64.22%
View 6422_s23 13 rs34734302
dbSNP Clinvar 		111102183 100.0 A G PASS 0/1 83 None None None 0.42252 0.42250 0.42991 None None None None None None COL4A2|0.044971251|64.22%
View 6422_s23 13 rs7326449
dbSNP Clinvar 		111099122 100.0 G A PASS 1/1 38 None None None 0.68890 0.68890 0.23115 None None None None None None COL4A2|0.044971251|64.22%
View 6422_s23 13 rs7988186
dbSNP Clinvar 		111098338 100.0 A T PASS 1/1 88 None None None 0.99121 0.99120 None None None None None None COL4A2|0.044971251|64.22%
View 6422_s23 13 rs7984100
dbSNP Clinvar 		111090924 100.0 G A PASS 0/1 57 None None None 0.00559 0.31290 0.36009 None None None None None None COL4A2|0.044971251|64.22%
View 6422_s23 13 rs7984937
dbSNP Clinvar 		111090909 100.0 T C PASS 0/1 58 None None None 0.31849 0.31850 0.37000 None None None None None None COL4A2|0.044971251|64.22%
View 6422_s23 13 rs3929758
dbSNP Clinvar 		111082157 100.0 C A PASS 1/1 28 None None None 0.73582 0.73580 None None None None None None COL4A2|0.044971251|64.22%
View 6422_s23 13 . 111076987 100.0 C CAAAA R5x9 0/1 66 None None None None None None None None None COL4A2|0.044971251|64.22%
View 6422_s23 13 rs4771678
dbSNP Clinvar 		111076940 100.0 T C PASS 0/1 66 None None None 0.73103 0.73100 None None None None None None COL4A2|0.044971251|64.22%
View 6422_s23 13 rs41275106
dbSNP Clinvar 		110895150 100.0 A G PASS 0/1 43 None None None 0.12840 0.12840 0.19010 None None None None None None COL4A1|0.224151486|33.94%
View 6422_s23 13 rs41275104
dbSNP Clinvar 		110895092 100.0 A G PASS 0/1 43 None None None 0.18990 0.18990 0.25588 None None None None None None COL4A1|0.224151486|33.94%
View 6422_s23 13 rs9521649
dbSNP Clinvar 		110862303 100.0 G A PASS 0/1 20 None None None 0.18510 0.18510 0.22889 None None None None None None COL4A1|0.224151486|33.94%
View 6422_s23 13 rs2166207
dbSNP Clinvar 		110862268 100.0 A C PASS 0/1 20 None None None 0.37999 0.38000 0.40889 None None None None None None COL4A1|0.224151486|33.94%
View 6422_s23 13 rs645114
dbSNP Clinvar 		110861785 100.0 C G PASS 1/1 194 None None None 0.86122 0.86120 0.14992 None None None None None None COL4A1|0.224151486|33.94%
View 6422_s23 13 rs35092560,rs398056873
dbSNP Clinvar 		110861096 100.0 CTA C PASS 0/1 35 None None None 0.21506 0.21510 None None None None None None COL4A1|0.224151486|33.94%
View 6422_s23 13 rs598893
dbSNP Clinvar 		110859743 100.0 C T PASS 0/1 73 None None None 0.59605 0.59600 0.43134 None None None None None None COL4A1|0.224151486|33.94%
View 6422_s23 13 rs598819
dbSNP Clinvar 		110859690 100.0 A G PASS 1/1 73 None None None 0.98183 0.98180 None None None None None None COL4A1|0.224151486|33.94%
View 6422_s23 13 rs537338028
dbSNP Clinvar 		110859088 100.0 A ATT PASS 0/1 82 None None None 0.00200 0.00200 0.00399 None None None None None None COL4A1|0.224151486|33.94%
View 6422_s23 13 rs9588116
dbSNP Clinvar 		110859069 100.0 G C PASS 0/1 82 None None None 0.01637 0.37000 0.39897 None None None None None None COL4A1|0.224151486|33.94%
View 6422_s23 13 rs677877
dbSNP Clinvar 		110857895 100.0 A G PASS 0/1 47 None None None 0.59645 0.59640 0.42988 None None None None None None COL4A1|0.224151486|33.94%
View 6422_s23 13 rs482757
dbSNP Clinvar 		110857823 100.0 C T PASS 0/1 82 None None None 0.59345 0.59350 0.43142 None None None None None None COL4A1|0.224151486|33.94%
View 6422_s23 13 rs115358624
dbSNP Clinvar 		110853882 100.0 G C PASS 0/1 91 None None None 0.01158 0.01158 0.01207 None None None None None None COL4A1|0.224151486|33.94%
View 6422_s23 13 rs995223
dbSNP Clinvar 		110851036 100.0 T C PASS 1/1 67 None None None 0.27576 0.27580 None None None None None None COL4A1|0.224151486|33.94%
View 6422_s23 13 . 110850770 100.0 TG CG,CA PASS 1/2 99 None None None None None None None None None COL4A1|0.224151486|33.94%
View 6422_s23 13 rs148032432
dbSNP Clinvar 		110850760 100.0 G A PASS 0/1 98 None None None 0.00958 0.00959 None None None None None None COL4A1|0.224151486|33.94%
View 6422_s23 13 rs113190026
dbSNP Clinvar 		110847308 100.0 A C PASS 0/1 33 None None None 0.01178 0.01178 None None None None None None COL4A1|0.224151486|33.94%
View 6422_s23 13 rs57652802
dbSNP Clinvar 		110847302 100.0 G C PASS 0/1 33 None None None 0.06749 0.06749 None None None None None None COL4A1|0.224151486|33.94%
View 6422_s23 13 rs685884
dbSNP Clinvar 		110845314 100.0 G A PASS 0/1 102 None None None 0.75399 0.75400 0.29347 None None None None None None COL4A1|0.224151486|33.94%
View 6422_s23 13 rs774438736,rs369420957
dbSNP Clinvar 		110833751 89.0 CA C R5x9 0/1 45 None None None 0.30137 None None None None None None COL4A1|0.224151486|33.94%
View 6422_s23 13 rs503053
dbSNP Clinvar 		110831451 100.0 T C PASS 0/1 87 None None None 0.39836 0.39840 None None None None None None COL4A1|0.224151486|33.94%
View 6422_s23 13 rs630968
dbSNP Clinvar 		110826399 100.0 C T PASS 0/1 30 None None None 0.08446 0.08446 None None None None None None COL4A1|0.224151486|33.94%
View 6422_s23 13 rs589985
dbSNP Clinvar 		110819586 100.0 G A PASS 1/1 96 None None None 0.65535 0.65540 0.37321 None None None None None None COL4A1|0.224151486|33.94%
View 6422_s23 13 rs1778817
dbSNP Clinvar 		110819460 100.0 G A PASS 1/1 94 None None None 0.62700 0.62700 0.39021 None None None None None None COL4A1|0.224151486|33.94%
View 6422_s23 13 rs652572
dbSNP Clinvar 		110819457 100.0 A G PASS 0/1 95 None None None 0.58706 0.58710 0.42673 None None None None None None COL4A1|0.224151486|33.94%
View 6422_s23 13 rs9588106
dbSNP Clinvar 		110818728 100.0 T C PASS 0/1 48 None None None 0.02396 0.02396 None None None None None None COL4A1|0.224151486|33.94%
View 6422_s23 13 rs617111
dbSNP Clinvar 		110807776 100.0 C T PASS 0/1 38 None None None 0.08966 0.08966 0.08544 None None None None None None COL4A1|0.224151486|33.94%
View 6422_s23 13 rs8002389
dbSNP Clinvar 		99607911 100.0 A G PASS 0/1 28 None None None 0.44269 0.44270 None None None None None None DOCK9|0.3175759|26.27%
View 6422_s23 13 rs7995432
dbSNP Clinvar 		99573165 100.0 T C PASS 0/1 38 None None None 0.08067 0.08067 0.07307 None None None None None None DOCK9|0.3175759|26.27%
View 6422_s23 13 rs35240640,rs539827424,rs398077527,rs398037825
dbSNP Clinvar 		99555187 100.0 AT A PASS 1/1 28 None None None 0.71870 None None None None None None DOCK9|0.3175759|26.27%
View 6422_s23 13 rs7328190
dbSNP Clinvar 		99555116 100.0 C A PASS 0/1 28 None None None 0.04593 0.04593 None None None None None None DOCK9|0.3175759|26.27%
View 6422_s23 13 rs2274643
dbSNP Clinvar 		99540500 100.0 A G PASS 0/1 94 None None None 0.46446 0.46450 0.44422 None None None None None None DOCK9|0.3175759|26.27%
View 6422_s23 13 rs1928104
dbSNP Clinvar 		99540395 100.0 A G PASS 0/1 43 None None None 0.67752 0.67750 0.27798 None None None None None None DOCK9|0.3175759|26.27%
View 6422_s23 13 rs6491466
dbSNP Clinvar 		99538935 100.0 C G PASS 0/1 52 None None None 0.46366 0.46370 None None None None None None DOCK9|0.3175759|26.27%
View 6422_s23 13 rs11411440,rs397934607
dbSNP Clinvar 		99537790 100.0 T TA R5x9 0/1 40 None None None 0.48982 0.48980 None None None None None None DOCK9|0.3175759|26.27%
View 6422_s23 13 rs2274642
dbSNP Clinvar 		99537217 100.0 G T PASS 0/1 64 None None None 0.67213 0.67210 0.27182 None None None None None None DOCK9|0.3175759|26.27%
View 6422_s23 13 rs2274641
dbSNP Clinvar 		99537202 100.0 C A PASS 0/1 65 None None None 0.67871 0.67870 0.27641 None None None None None None DOCK9|0.3175759|26.27%
View 6422_s23 13 rs2296997
dbSNP Clinvar 		99536220 100.0 A G PASS 0/1 39 None None None 0.66753 0.66750 None None None None None None DOCK9|0.3175759|26.27%
View 6422_s23 13 rs2296996
dbSNP Clinvar 		99536215 100.0 C T PASS 0/1 39 None None None 0.62680 0.62680 None None None None None None DOCK9|0.3175759|26.27%
View 6422_s23 13 rs9517474
dbSNP Clinvar 		99536031 100.0 G A PASS 0/1 39 None None None 0.67832 0.67830 0.27615 None None None None None None DOCK9|0.3175759|26.27%
View 6422_s23 13 rs146706071
dbSNP Clinvar 		99519625 100.0 TG T PASS 0/1 63 None None None 0.03714 0.03714 None None None None None None DOCK9|0.3175759|26.27%
View 6422_s23 13 rs74935808
dbSNP Clinvar 		99505779 100.0 A G PASS 0/1 23 None None None 0.04173 0.04173 0.04656 None None None None None None DOCK9|0.3175759|26.27%
View 6422_s23 13 rs9513497
dbSNP Clinvar 		99505632 100.0 C T PASS 0/1 24 None None None 0.40355 0.40360 0.48434 None None None None None None DOCK9|0.3175759|26.27%
View 6422_s23 13 rs116105490
dbSNP Clinvar 		99460974 100.0 A G PASS 0/1 30 None None None 0.03175 0.03175 0.02884 None None None None None None DOCK9|0.3175759|26.27%
View 6422_s23 13 rs1289315
dbSNP Clinvar 		99449755 100.0 G A PASS 0/1 73 None None None 0.51218 0.51220 0.39161 None None None None None None DOCK9|0.3175759|26.27%
View 6422_s23 13 rs1289314
dbSNP Clinvar 		99449579 100.0 T C PASS 0/1 72 None None None 0.75040 0.75040 None None None None None None DOCK9|0.3175759|26.27%
View 6422_s23 13 rs2479426
dbSNP Clinvar 		111164198 100.0 T C PASS 0/1 41 None None None 0.50379 0.50380 None None None None None None COL4A2|0.044971251|64.22%
View 6422_s23 13 rs812808
dbSNP Clinvar 		99447005 100.0 T C PASS 0/1 42 None None None 0.75559 0.75560 0.15847 None None None None None None DOCK9|0.3175759|26.27%
View 6422_s23 13 rs7316969
dbSNP Clinvar 		111159054 100.0 G A PASS 1/1 55 None None None 0.95008 0.95010 None None None None None None COL4A2|0.044971251|64.22%
View 6422_s23 13 rs414881
dbSNP Clinvar 		111156411 100.0 G A PASS 0/1 75 None None None 0.47604 0.47600 None None None None None None COL4A2|0.044971251|64.22%
View 6422_s23 13 rs9301460
dbSNP Clinvar 		111156153 100.0 G A PASS 0/1 37 None None None 0.35963 0.35960 0.38778 None None None None None None COL4A2|0.044971251|64.22%
View 6422_s23 13 rs4773198
dbSNP Clinvar 		111155711 100.0 C T PASS 0/1 32 None None None 0.34525 0.34520 0.37541 None None None None None None COL4A2|0.044971251|64.22%
View 6422_s23 13 rs401316
dbSNP Clinvar 		111155428 100.0 C T PASS 1/1 14 None None None 1.00000 1.00000 None None None None None None COL4A2|0.044971251|64.22%
View 6422_s23 13 rs2281968
dbSNP Clinvar 		111154160 100.0 G A PASS 0/1 56 None None None 0.50839 0.50840 0.42022 None None None None None None COL4A2|0.044971251|64.22%
View 6422_s23 13 rs388222
dbSNP Clinvar 		111154159 100.0 C T PASS 0/1 56 None None None 0.42871 0.42870 0.36312 None None None None None None COL4A2|0.044971251|64.22%
View 6422_s23 13 rs413756
dbSNP Clinvar 		111143755 100.0 T C PASS 1/1 64 None None None 0.71805 0.71810 None None None None None None COL4A2|0.044971251|64.22%
View 6422_s23 13 rs7985245
dbSNP Clinvar 		111143361 100.0 G T PASS 1/1 64 None None None 0.02536 0.02536 None None None None None None COL4A2|0.044971251|64.22%
View 6422_s23 13 rs115953532
dbSNP Clinvar 		111142158 100.0 C T PASS 0/1 30 None None None 0.01038 0.01038 0.01092 None None None None None None COL4A2|0.044971251|64.22%
View 6422_s23 13 rs368115
dbSNP Clinvar 		111142016 100.0 G A PASS 1/1 30 None None None 0.14457 0.14460 0.14638 None None None None None None COL4A2|0.044971251|64.22%
View 6422_s23 13 rs409345
dbSNP Clinvar 		111142009 100.0 A C PASS 1/1 30 None None None 0.14457 0.14460 0.14589 None None None None None None COL4A2|0.044971251|64.22%
View 6422_s23 13 rs1983930
dbSNP Clinvar 		111137167 100.0 T C PASS 1/1 76 None None None 0.99661 0.99660 None None None None None None COL4A2|0.044971251|64.22%
View 6422_s23 13 rs3803228
dbSNP Clinvar 		111134858 100.0 T C PASS 0/1 32 None None None 0.19090 0.19090 0.19202 None None None None None None COL4A2|0.044971251|64.22%
View 6422_s23 13 rs1475438
dbSNP Clinvar 		111132820 100.0 G A PASS 0/1 113 None None None 0.75220 0.75220 None None None None None None COL4A2|0.044971251|64.22%
View 6422_s23 13 rs74124618
dbSNP Clinvar 		111132522 100.0 G A PASS 0/1 40 None None None 0.04573 0.04573 0.02252 None None None None None None COL4A2|0.044971251|64.22%
View 6422_s23 13 rs2281974
dbSNP Clinvar 		111130519 100.0 C T PASS 0/1 78 None None None 0.46905 0.46900 0.37564 None None None None None None COL4A2|0.044971251|64.22%
View 6422_s23 13 rs9559818
dbSNP Clinvar 		111130226 100.0 G A PASS 0/1 40 None None None 0.43590 0.43590 None None None None None None COL4A2|0.044971251|64.22%
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