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+ Genes 2

Genes:
CYB5R2, LTBP2,

+ Genes associated with diseases 1

Genes at Omim

LTBP2,
LTBP2 ?Weill-Marchesani syndrome 3, recessive, 614819 (3)
Glaucoma 3, primary congenital, D, 613086 (3)
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750 (3)

Genes at Clinical Genomics Database

LTBP2,
LTBP2 Glaucoma 3, primary congenital, D
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
Weill-Marchesani syndrome 3

Genes at HGMD

Summary

Number of Variants: 43
Number of Genes: 2

Export to: CSV
  • Page 1 of 1

CYB5R2
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 1313946 11 rs112446452
dbSNP Clinvar 		7687160 225.0 C T . 0/1 0 MOTIF[MA0139.1:CTCF] MODIFIER None 0.02895 0.02895 None None None None None None CYB5R2|0.057621137|60.52%

LTBP2
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 1313946 14 rs77172932
dbSNP Clinvar 		74969268 225.0 C T . 0/1 0 MOTIF[MA0139.1:CTCF] MODIFIER None 0.02556 0.02556 0.00 None None None None None None LTBP2|0.184719306|38.39%
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 1313946 4 rs17470892
dbSNP Clinvar 		48143201 192.0 T C . 1/1 0 MOTIF[MA0139.1:CTCF] MODIFIER None 0.19569 0.19570 None None None None None None TEC|0.720083632|7.97%
View 1313946 11 rs2298724
dbSNP Clinvar 		120823721 128.0 A G . 0/1 0 MOTIF[MA0139.1:CTCF] MODIFIER None 0.26558 0.26560 0.25984 None None None None None None GRIK4|0.59773792|11.84%
View 1313946 13 rs9535292
dbSNP Clinvar 		50244041 225.0 T C . 0/1 0 MOTIF[MA0139.1:CTCF] MODIFIER None 0.61062 0.61060 0.37188 None None None None None None EBPL|0.026484478|71.13%
View 1313946 14 rs4982856
dbSNP Clinvar 		24563212 222.0 T C . 1/1 0 MOTIF[MA0139.1:CTCF] MODIFIER None 0.41154 0.41150 None None None None None None NRL|0.215034879|34.98%
View 1313946 15 rs55986634
dbSNP Clinvar 		64275645 125.0 G A . 0/1 0 MOTIF[MA0139.1:CTCF] MODIFIER None 0.16214 0.16210 None None None None None None DAPK2|0.301329146|27.56%
View 1313946 19 rs339396
dbSNP Clinvar 		6733545 225.0 G C . 0/1 0 MOTIF[MA0139.1:CTCF] MODIFIER None 0.09345 0.09345 0.09898 None None None None None None GPR108|0.020004906|74.19%
View 1313946 19 rs12975442
dbSNP Clinvar 		7917919 222.0 C T . 1/1 0 MOTIF[MA0139.1:CTCF] MODIFIER None 0.42931 0.42930 None None None None None None EVI5L|0.086789363|53.81%
View 1313946 19 rs2301669
dbSNP Clinvar 		19453560 225.0 C A . 0/1 0 MOTIF[MA0139.1:CTCF] MODIFIER None 0.52436 0.52440 0.42822 None None None None None None MAU2|0.230960956|33.29%
View 1313946 1 rs2027222
dbSNP Clinvar 		9084924 196.0 T C . 0/1 0 MOTIF[MA0139.1:CTCF] MODIFIER None 0.81709 0.81710 None None None None None None SLC2A7|0.007683394|82.87%
View 1313946 20 rs6086563
dbSNP Clinvar 		8703145 187.0 C G . 1/1 0 MOTIF[MA0139.1:CTCF] MODIFIER None 0.66214 0.66210 None None None None None None PLCB1|0.832831133|5.05%
View 1313946 1 rs111568119
dbSNP Clinvar 		27683615 225.0 G A . 0/1 0 MOTIF[MA0139.1:CTCF] MODIFIER None 0.09685 0.09685 0.09711 None None None None None None MAP3K6|0.108502689|49.47%
View 1313946 2 rs2243805
dbSNP Clinvar 		128407499 225.0 G A . 0/1 0 MOTIF[MA0139.1:CTCF] MODIFIER None 0.54293 0.54290 None None None None None None LIMS2|0.178462666|39.21%,GPR17|0.126816892|46.37%
View 1313946 5 rs4957430
dbSNP Clinvar 		41843797 225.0 C T . 0/1 0 MOTIF[MA0139.1:CTCF] MODIFIER None 0.21605 0.21610 None None None None None None OXCT1|0.313202771|26.58%
View 1313946 7 rs10224408
dbSNP Clinvar 		139415723 225.0 G A . 0/1 0 MOTIF[MA0139.1:CTCF] MODIFIER None 0.11941 0.11940 0.15136 None None None None None None HIPK2|0.358752838|23.52%
View 1313946 10 rs11000014
dbSNP Clinvar 		73571881 120.0 G A . 0/1 0 MOTIF[MA0139.1:CTCF] MODIFIER None 0.13918 0.13920 None None None None None None CDH23|0.499757104|15.83%
View 1313946 10 rs11000015
dbSNP Clinvar 		73571883 124.0 C T . 0/1 0 MOTIF[MA0139.1:CTCF] MODIFIER None 0.19868 0.19870 None None None None None None CDH23|0.499757104|15.83%
View 1313946 11 rs4078520
dbSNP Clinvar 		723429 225.0 C T . 0/1 0 MOTIF[MA0139.1:CTCF] MODIFIER None 0.34165 0.34170 None None None None None None EPS8L2|0.009899843|80.93%
View 1313946 11 rs12793946
dbSNP Clinvar 		13031846 225.0 G A . 0/1 0 MOTIF[MA0139.1:CTCF] MODIFIER None 0.05072 0.05072 0.08486 None None None None None None None
View 1313946 11 rs2074039
dbSNP Clinvar 		44092880 225.0 C T . 0/1 0 MOTIF[MA0139.1:CTCF] MODIFIER None 0.09345 0.09345 0.11203 None None None None None None ACCS|0.034927707|67.49%
View 1313946 14 . 65453493 6.55 TG... TG... . 0/1 0 MOTIF[MA0139.1:CTCF] LOW None None None None None None None CHURC1-FNTB|0.506332309|15.53%,FNTB|0.413954649|19.93%
View 1313946 14 rs11847538
dbSNP Clinvar 		106877519 222.0 A G . 1/1 0 MOTIF[MA0139.1:CTCF] MODIFIER None 0.27875 0.27880 None None None None None None None
View 1313946 17 rs2189336
dbSNP Clinvar 		5326162 197.0 G A . 0/1 0 MOTIF[MA0139.1:CTCF] MODIFIER None 0.77875 0.77880 0.39428 None None None None None None RPAIN|0.023237381|72.57%
View 1313946 17 rs820387
dbSNP Clinvar 		73746146 225.0 T C . 0/1 0 MOTIF[MA0139.1:CTCF] MODIFIER None 0.74062 0.74060 0.21313 None None None None None None ITGB4|0.346553835|24.38%
View 1313946 17 rs55715426
dbSNP Clinvar 		73760820 225.0 G A . 0/1 0 MOTIF[MA0139.1:CTCF] MODIFIER None 0.09984 0.09984 0.10000 None None None None None None GALK1|0.289083483|28.42%
View 1313946 17 rs2665961
dbSNP Clinvar 		74023107 59.0 A G . 0/1 0 MOTIF[MA0139.1:CTCF] MODIFIER None 0.50839 0.50840 None None None None None None EVPL|0.131929334|45.62%
View 1313946 20 rs6089695
dbSNP Clinvar 		60808026 225.0 C T . 0/1 0 MOTIF[MA0139.1:CTCF] MODIFIER None 0.38538 0.38540 None None None None None None None
View 1313946 22 rs13053731
dbSNP Clinvar 		36682707 225.0 G A . 0/1 0 MOTIF[MA0139.1:CTCF] MODIFIER None 0.04113 0.04113 None None None None None None MYH9|0.668562251|9.42%
View 1313946 5 rs6556037
dbSNP Clinvar 		172097353 142.0 C T . 0/1 0 MOTIF[MA0139.1:CTCF] MODIFIER None 0.27256 0.27260 None None None None None None NEURL1B|0.153686814|42.45%
View 1313946 7 rs11761361
dbSNP Clinvar 		102107697 138.0 G C . 0/1 0 MOTIF[MA0139.1:CTCF] MODIFIER None 0.47125 0.47120 None None None None None None LRWD1|0.105506437|50.14%
View 1313946 9 rs1572344
dbSNP Clinvar 		133948375 225.0 T C . 0/1 0 MOTIF[MA0139.1:CTCF] MODIFIER None 0.81550 0.81550 None None None None None None LAMC3|0.028908459|69.93%
View 1313946 11 rs2286810
dbSNP Clinvar 		22851409 40.0 A G . 0/1 0 MOTIF[MA0139.1:CTCF] MODIFIER None 0.38299 0.38300 None None None None None None SVIP|0.065416803|58.51%
View 1313946 11 rs575375
dbSNP Clinvar 		64535357 222.0 T C . 1/1 0 MOTIF[MA0139.1:CTCF] MODIFIER None 0.96865 0.96870 0.03041 None None None None None None SF1|0.639225523|10.49%
View 1313946 12 rs34427788
dbSNP Clinvar 		54350412 219.0 C T . 0/1 0 MOTIF[MA0139.1:CTCF] MODIFIER None 0.08466 0.08466 None None None None None None HOXC12|0.131576524|45.67%
View 1313946 14 rs6109
dbSNP Clinvar 		95058360 164.0 A G . 1/1 0 MOTIF[MA0139.1:CTCF] MODIFIER None 0.63099 0.63100 0.22036 None None None None None None SERPINA5|0.010727799|80.35%
View 1313946 14 rs72710126
dbSNP Clinvar 		95696275 169.0 G A . 0/1 0 MOTIF[MA0139.1:CTCF] MODIFIER None 0.12820 0.12820 None None None None None None CLMN|0.046085386|63.88%
View 1313946 15 rs2253603
dbSNP Clinvar 		40565055 225.0 G A . 0/1 0 MOTIF[MA0139.1:CTCF] MODIFIER None 0.45447 0.45450 0.42673 None None None None None None PAK6|0.183662894|38.57%
View 1313946 16 rs7206590
dbSNP Clinvar 		85120500 65.0 C T . 0/1 0 MOTIF[MA0139.1:CTCF] MODIFIER None 0.29293 0.29290 None None None None None None KIAA0513|0.076353431|56.01%
View 1313946 16 rs2291963
dbSNP Clinvar 		85120510 88.0 A G . 0/1 0 MOTIF[MA0139.1:CTCF] MODIFIER None 0.36582 0.36580 None None None None None None KIAA0513|0.076353431|56.01%
View 1313946 19 rs2305763
dbSNP Clinvar 		17316253 225.0 T C . 0/1 0 MOTIF[MA0139.1:CTCF] MODIFIER None 0.62979 0.62980 None None None None None None MYO9B|0.037345575|66.66%
View 1313946 19 rs1675389
dbSNP Clinvar 		41076749 222.0 C G . 1/1 0 MOTIF[MA0139.1:CTCF] MODIFIER None 0.73163 0.73160 None None None None None None SPTBN4|0.129297716|45.97%
View 1313946 22 rs12484228
dbSNP Clinvar 		41939739 222.0 A G . 1/1 0 MOTIF[MA0139.1:CTCF] MODIFIER None 0.21086 0.21090 None None None None None None POLR3H|0.335521518|25.1%
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