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+ Genes 5

+ Genes associated with diseases 1

Genes at Omim

ALDH3A2,
ALDH3A2 Sjogren-Larsson syndrome, 270200 (3)

Genes at Clinical Genomics Database

ALDH3A2,
ALDH3A2 Sjogren-Larsson syndrome

Genes at HGMD

Summary

Number of Variants: 21
Number of Genes: 5

Export to: CSV
  • Page 1 of 1

ALDH3A2
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 pdb336 vep 17 rs7216
dbSNP Clinvar 		19578873 1633.77 A T . 0/1 164 SPLICE_SITE_REGION LOW None 0.67851 0.67850 0.44933 1.28 None None None None None None ALDH3A2|0.089181599|53.41%

CCDC74B
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 pdb336 vep 2 rs2292302
dbSNP Clinvar 		130902194 1185.77 C T . 0/1 121 SPLICE_SITE_REGION LOW None 0.44369 0.44370 0.16 0.93 0.47 None None None None None None CCDC74B|0.002020992|90.93%

CCNB1IP1
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 pdb336 vep 14 rs1132644
dbSNP Clinvar 		20784718 1310.77 G T . 0/1 118 SPLICE_SITE_REGION LOW None 0.59565 0.59560 0.42880 0.06 0.00 -0.14 None None None None None None CCNB1IP1|0.349909331|24.13%

RARRES2
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 pdb336 vep 7 rs4721
dbSNP Clinvar 		150035526 1201.77 T G . 0/1 110 SPLICE_SITE_REGION LOW None 0.47863 0.47860 0.52 0.00 -0.11 None None None None None None RARRES2|0.012877384|78.57%

TNS3
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 pdb336 vep 7 rs11763044
dbSNP Clinvar 		47481602 2709.77 G A . 0/1 179 SPLICE_SITE_REGION LOW None 0.34944 0.34940 0.04 0.23 -0.21 None None None None None None TNS3|0.04703279|63.56%
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 pdb336 vep 4 rs2070951
dbSNP Clinvar 		149358014 1132.77 G C . 0/1 69 SPLICE_SITE_REGION LOW None 0.50080 0.50080 0.39743 None None None None None None NR3C2|0.850524024|4.63%
View pdb336 vep 4 rs1757935
dbSNP Clinvar 		130023759 4402.77 A T . 1/1 136 SPLICE_SITE_REGION LOW None 0.68271 0.68270 0.31301 None None None None None None C4orf33|0.075968961|56.1%
View pdb336 vep 7 rs11975640
dbSNP Clinvar 		123610348 5023.77 C T . 1/1 151 SPLICE_SITE_REGION LOW None 0.29892 0.29890 0.38683 None None None None None None SPAM1|0.001851125|91.41%
View pdb336 vep 14 rs698028
dbSNP Clinvar 		62120575 1875.77 C T . 0/1 139 SPLICE_SITE_REGION LOW None 0.51418 0.51420 None None None None None None None
View pdb336 vep 19 rs149426594
dbSNP Clinvar 		15235879 770.77 A G . 0/1 85 SPLICE_SITE_REGION LOW None 0.00619 0.00619 0.01166 None None None None None None ILVBL|0.048066594|63.31%
View pdb336 vep 1 rs9326115
dbSNP Clinvar 		75036783 4956.77 T C . 1/1 149 SPLICE_SITE_REGION LOW None 0.97504 0.97500 0.02768 None None None None None None ERICH3|0.0119525|79.27%
View pdb336 vep 4 . 2230075 23.27 CTT C . 1/1 3 SPLICE_SITE_REGION LOW None None None None None None None POLN|0.02012469|74.11%,HAUS3|0.12533021|46.58%
View pdb336 vep 17 rs7214366
dbSNP Clinvar 		16340316 1029.77 A C . 0/1 88 SPLICE_SITE_REGION LOW None 0.27516 0.27520 None None None None None None TRPV2|0.108548021|49.45%
View pdb336 vep 9 rs41312236
dbSNP Clinvar 		95375468 957.77 G A . 0/1 67 SPLICE_SITE_REGION LOW None 0.04613 0.04613 0.03768 None None None None None None CENPP|0.015429847|76.86%,IPPK|0.084766771|54.27%
View pdb336 vep 11 rs11523504
dbSNP Clinvar 		55861760 304.77 A G . 0/1 19 SPLICE_SITE_REGION LOW None 0.23103 0.23100 None None None None None None OR8I2|0.005200273|85.58%
View pdb336 vep 11 rs1263505
dbSNP Clinvar 		77811990 2466.77 T C . 1/1 71 SPLICE_SITE_REGION LOW None 0.83267 0.83270 0.11961 None None None None None None ALG8|0.271828489|29.77%
View pdb336 vep 17 rs9904043
dbSNP Clinvar 		27000391 945.77 A G . 0/1 86 SPLICE_SITE_REGION LOW None 0.77197 0.77200 0.25665 None None None None None None SUPT6H|0.667925783|9.44%
View pdb336 vep 19 . 58125870 542.77 A C . 0/1 38 SPLICE_SITE_REGION LOW None None None None None None None ZNF134|0.000949797|95.79%
View pdb336 vep 1 rs4244184
dbSNP Clinvar 		248486895 3056.77 G T . 0/1 246 SPLICE_SITE_REGION LOW None 0.82528 0.82530 0.22135 None None None None None None OR2M7|0.001481196|92.85%
View pdb336 vep 20 rs6128402
dbSNP Clinvar 		57266781 662.77 C T . 0/1 53 SPLICE_SITE_REGION LOW None 0.29732 0.29730 None None None None None None NPEPL1|0.075411836|56.19%
View pdb336 vep 8 rs62495369
dbSNP Clinvar 		11872972 218.77 C G . 0/1 47 SPLICE_SITE_REGION LOW None None None None None None None None
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