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+ Genes 12

+ Genes associated with diseases 4

Genes at Omim

COL4A1, PROZ, RCBTB1, SACS,
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)
PROZ [Protein Z deficiency], 614024 (3)
RCBTB1 Retinal dystrophy with or without extraocular anomalies, 617175 (3)
SACS Spastic ataxia, Charlevoix-Saguenay type, 270550 (3)

Genes at Clinical Genomics Database

COL4A1, PROZ, SACS,
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
PROZ Protein Z deficiency
SACS Spastic ataxia, Charlevoix-Saguenay type

Genes at HGMD

Summary

Number of Variants: 50
Number of Genes: 12

Export to: CSV
  • Page 1 of 1

AKAP11
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 eb1954_unique 13 rs61752500
dbSNP Clinvar 		42875587 2986.18 A G PASS 0/1 267 NON_SYNONYMOUS_CODING MODERATE None 0.00220 0.00220 0.00392 0.06 0.00 2.29 0.01 0.32522 T None None None None AKAP11|0.091513313|52.94%

AL355390.1
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 eb1954_unique 13 rs61965143
dbSNP Clinvar 		74988872 1367.18 C T PASS 0/1 114 NON_SYNONYMOUS_CODING MODERATE None 0.01997 0.01997 0.00 None None None None None None None

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 eb1954_unique 13 rs149688210
dbSNP Clinvar 		110861199 3605.18 G A PASS 0/1 360 SYNONYMOUS_CODING LOW None 0.00060 0.00060 0.00046 None None None None None None COL4A1|0.224151486|33.94%

LMO7
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 eb1954_unique 13 rs182908547
dbSNP Clinvar 		76381679 3482.18 T C PASS 0/1 283 SYNONYMOUS_CODING LOW None 0.00180 0.00180 0.00398 None None None None None None LMO7|0.14518442|43.69%

MYCBP2
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 eb1954_unique 13 rs777846312
dbSNP Clinvar 		77900866 220.32 C T PASS 0/1 34 SYNONYMOUS_CODING LOW None None None None None None None MYCBP2|0.667579029|9.45%

PROZ
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 eb1954_unique 13 rs143760342
dbSNP Clinvar 		113825970 2716.18 C T PASS 0/1 233 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.00020 0.00054 0.07 0.00 2.04 0.17 0.85152 D None None None None PROZ|0.002511319|89.67%

RCBTB1
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 eb1954_unique 13 rs41284792
dbSNP Clinvar 		50118998 1160.18 C T PASS 0/1 95 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.00379 0.00379 0.00946 None None None None None None RCBTB1|0.271975199|29.74%

RP11-65D24.2
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 eb1954_unique 13 rs149945908
dbSNP Clinvar 		112278413 3810.18 C T PASS 0/1 316 NON_SYNONYMOUS_CODING MODERATE None 0.00080 0.00080 0.00 None None None None None None None

SACS
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 eb1954_unique 13 rs146451611
dbSNP Clinvar 		23913939 2324.18 A G PASS 0/1 188 NON_SYNONYMOUS_CODING MODERATE None 0.00200 0.31 0.02 0.60 0.04 0.59743 D None None None None SACS|0.212916591|35.26%

TNFRSF19
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 eb1954_unique 13 rs3751362
dbSNP Clinvar 		24243204 15235.77 G A PASS 1/1 104 NON_SYNONYMOUS_CODING MODERATE None 0.16034 0.16030 0.11864 0.60 0.00 -1.42 None None None None None None TNFRSF19|0.063639492|58.97%

TRIM13
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 eb1954_unique 13 rs371469381
dbSNP Clinvar 		50587105 4051.18 C T PASS 0/1 384 SYNONYMOUS_CODING LOW None 0.00008 None None None None None None TRIM13|0.324578262|25.83%

TUBA3C
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 eb1954_unique 13 rs780860372
dbSNP Clinvar 		19748167 1093.18 G A PASS 0/1 156 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.79 5.54 0.02 0.4349 T None None None None None
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 eb1954_unique 13 rs74868982
dbSNP Clinvar 		36876048 1801.45 T A PASS 0/1 166 None None None 0.00200 0.00200 None None None None None None SPG20|0.147717514|43.36%
View eb1954_unique 13 rs148177150
dbSNP Clinvar 		40230365 1241.18 A C PASS 0/1 101 None None None 0.00399 0.00399 None None None None None None COG6|0.303873453|27.36%
View eb1954_unique 13 rs9562383
dbSNP Clinvar 		42742966 893.18 T A PASS 0/1 112 None None None 0.07528 0.07528 0.03483 None None None None None None DGKH|0.240075062|32.44%
View eb1954_unique 13 . 48667648 4252.18 A G PASS 0/1 398 None None None None None None None None None MED4|0.616479037|11.23%
View eb1954_unique 13 . 48923197 1408.18 A T PASS 0/1 137 None None None None None None None None None RB1|0.998226541|0.53%
View eb1954_unique 13 rs386379118
dbSNP Clinvar 		49034022 115995.12 A AT... PASS 6/6 112 None None None 0.01757 0.84700 None None None None None None RB1|0.998226541|0.53%
View eb1954_unique 13 rs193267523
dbSNP Clinvar 		49840169 2591.18 A G PASS 0/1 161 None None None 0.00040 0.00040 None None None None None None CDADC1|0.301878995|27.51%
View eb1954_unique 13 rs141679029
dbSNP Clinvar 		49867661 18837.83 GG... GG... PASS 2/3 27 None None None None None None None None None None
View eb1954_unique 13 rs41284784
dbSNP Clinvar 		50106782 1105.3 A G PASS 0/1 108 None None None 0.00220 0.00220 None None None None None None RCBTB1|0.271975199|29.74%
View eb1954_unique 13 rs192675802
dbSNP Clinvar 		72063123 724.18 G A PASS 0/1 63 None None None 0.00200 0.00200 0.00470 None None None None None None DACH1|0.996005265|0.75%
View eb1954_unique 13 . 73320621 2619.18 T TC PASS 0/1 179 None None None None None None None None None BORA|0.244606958|32.05%
View eb1954_unique 13 rs200013774
dbSNP Clinvar 		74264779 1476.27 CA C PASS 0/1 118 None None None 0.00359 0.00359 None None None None None None KLF12|0.868355902|4.25%
View eb1954_unique 13 rs753896141,rs71127549
dbSNP Clinvar 		76102137 5165.9 GC... GC... PASS 2/3 10 None None None None None None None None None COMMD6|0.084026288|54.41%
View eb1954_unique 13 rs9593348
dbSNP Clinvar 		79194670 13395.06 G A PASS 1/1 77 None None None 0.14657 0.14660 None None None None None None RNF219|0.546831967|13.87%
View eb1954_unique 13 rs117212022
dbSNP Clinvar 		95034582 630.18 A G PASS 0/1 61 None None None 0.00180 0.00180 None None None None None None GPC6|0.985135102|1.28%
View eb1954_unique 13 rs186436174
dbSNP Clinvar 		99573427 445.18 A G PASS 0/1 43 None None None 0.00399 0.00399 None None None None None None DOCK9|0.3175759|26.27%
View eb1954_unique 13 . 103392122 2535.18 G A PASS 0/1 208 None None None -0.17 None None None None None None None
View eb1954_unique 13 . 107194651 1607.36 GA GAA, PASS 0/2 77 None None None None None None None None None ARGLU1|0.821578966|5.27%
View eb1954_unique 13 . 109860094 1825.31 G A PASS 0/1 153 None None None None None None None None None MYO16|0.035009258|67.47%
View eb1954_unique 13 rs376558395
dbSNP Clinvar 		113213716 974.18 G A PASS 0/1 74 None None None 0.00008 None None None None None None TUBGCP3|0.091754133|52.87%
View eb1954_unique 13 rs11672
dbSNP Clinvar 		114747391 23845.85 C T PASS 1/1 126 None None None 0.07768 0.07768 None None None None None None RASA3|0.077068101|55.88%
View eb1954_unique 13 rs11147333
dbSNP Clinvar 		114748709 16168.07 G A PASS 1/1 81 None None None 0.07748 0.07748 0.14547 None None None None None None RASA3|0.077068101|55.88%
View eb1954_unique 13 rs41291211
dbSNP Clinvar 		114774952 21770.07 C T PASS 1/1 147 None None None 0.07748 0.07748 0.14532 None None None None None None RASA3|0.077068101|55.88%
View eb1954_unique 13 rs41291213
dbSNP Clinvar 		114774991 15516.07 C T PASS 1/1 117 None None None 0.07907 0.07907 0.14635 None None None None None None RASA3|0.077068101|55.88%
View eb1954_unique 13 rs9525355
dbSNP Clinvar 		114817659 25541.07 G T PASS 1/1 156 None None None 0.07808 0.07808 0.14589 None None None None None None RASA3|0.077068101|55.88%
View eb1954_unique 13 . 30779855 233.4 GT... G PASS 0/1 24 None None None None None None None None None KATNAL1|0.151548535|42.74%
View eb1954_unique 13 rs202129100
dbSNP Clinvar 		115089297 3623.18 G C PASS 0/1 331 START_GAINED LOW None 0.00160 0.00160 0.00892 None None None None None None CHAMP1|0.091768231|52.86%
View eb1954_unique 13 . 20236085 170.0 CTT C PASS 0/1 6 None None None None None None None None None MPHOSPH8|0.030963821|68.98%
View eb1954_unique 13 . 29608332 852.18 A T PASS 0/1 89 None None None None None None None None None MTUS2|0.119691601|47.5%
View eb1954_unique 13 . 30341051 2085.35 CTTG C PASS 0/1 103 None None None None None None None None None UBL3|0.495801559|16.04%
View eb1954_unique 13 . 30341055 2085.35 AT A VQSRTrancheINDEL99.00to99.90 0/1 102 None None None None None None None None None UBL3|0.495801559|16.04%
View eb1954_unique 13 . 30341058 2075.4 T C PASS 0/1 101 None None None None None None None None None UBL3|0.495801559|16.04%
View eb1954_unique 13 . 30341062 2054.35 AG A VQSRTrancheINDEL99.00to99.90 0/1 101 None None None None None None None None None UBL3|0.495801559|16.04%
View eb1954_unique 13 rs144491437
dbSNP Clinvar 		20715037 941.83 A G PASS 0/1 89 None None None 0.00919 0.00919 None None None None None None GJA3|0.030515015|69.16%
View eb1954_unique 13 rs141040647
dbSNP Clinvar 		20715611 1681.41 T C PASS 0/1 140 None None None 0.00919 0.00919 None None None None None None GJA3|0.030515015|69.16%
View eb1954_unique 13 rs3751360
dbSNP Clinvar 		24243405 4826.89 A T PASS 1/1 48 None None None 0.16054 0.16050 None None None None None None TNFRSF19|0.063639492|58.97%
View eb1954_unique 13 rs769158667
dbSNP Clinvar 		28854695 909.24 T A, PASS 1/1 1 None None None None None None None None None PAN3|0.615381856|11.28%
View eb1954_unique 13 rs17596765
dbSNP Clinvar 		33739427 26429.03 T G PASS 1/1 146 None None None 0.09884 0.09884 0.09227 None None None None None None STARD13|0.162952021|41.15%
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