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 CHR:

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+ Genes 3

Genes:
ALDH3A2, RARRES2, TNS3,

+ 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: 15
Number of Genes: 3

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 7341maas0357_annotated 17 rs7216
dbSNP Clinvar 		19578873 2807.77 A T PASS 0/1 189 SPLICE_SITE_REGION LOW None 0.67851 0.67850 0.44933 None None None None None None ALDH3A2|0.089181599|53.41%

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 7341maas0357_annotated 7 rs4721
dbSNP Clinvar 		150035526 640.77 T G PASS 0/1 63 SPLICE_SITE_REGION LOW None 0.47863 0.47860 0.52 0.00 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 7341maas0357_annotated 7 rs11763044
dbSNP Clinvar 		47481602 5400.77 G A PASS 1/1 167 SPLICE_SITE_REGION LOW None 0.34944 0.34940 0.04 0.61 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 7341maas0357_annotated 7 rs11267038
dbSNP Clinvar 		25163744 2224.77 A C PASS 0/1 180 SPLICE_SITE_REGION LOW None 0.01538 0.01538 0.04104 None None None None None None CYCS|0.998873025|0.44%
View 7341maas0357_annotated 7 rs11975640
dbSNP Clinvar 		123610348 1792.77 C T PASS 0/1 153 SPLICE_SITE_REGION LOW None 0.29892 0.29890 0.38683 None None None None None None SPAM1|0.001851125|91.41%
View 7341maas0357_annotated 11 rs497681
dbSNP Clinvar 		6807243 845.77 G A PASS 0/1 96 SPLICE_SITE_REGION LOW None 0.56590 0.56590 0.42089 None None None None None None OR2AG1|0.031854216|68.67%
View 7341maas0357_annotated 1 rs9326115
dbSNP Clinvar 		75036783 2683.77 T C PASS 1/1 80 SPLICE_SITE_REGION LOW None 0.97504 0.97500 0.02768 None None None None None None ERICH3|0.0119525|79.27%
View 7341maas0357_annotated 17 rs9904043
dbSNP Clinvar 		27000391 1780.77 A G PASS 1/1 53 SPLICE_SITE_REGION LOW None 0.77197 0.77200 0.25665 None None None None None None SUPT6H|0.667925783|9.44%
View 7341maas0357_annotated 1 rs74520550
dbSNP Clinvar 		155006450 849.77 C A PASS 0/1 52 SPLICE_SITE_REGION LOW None 0.11661 0.11660 0.17915 None None None None None None DCST1|0.042081714|65.1%
View 7341maas0357_annotated 1 rs4244184
dbSNP Clinvar 		248486895 2944.77 G T PASS 1/1 88 SPLICE_SITE_REGION LOW None 0.82528 0.82530 0.22135 None None None None None None OR2M7|0.001481196|92.85%
View 7341maas0357_annotated 4 rs2070951
dbSNP Clinvar 		149358014 1554.77 G C PASS 1/1 44 SPLICE_SITE_REGION LOW None 0.50080 0.50080 0.39743 None None None None None None NR3C2|0.850524024|4.63%
View 7341maas0357_annotated 11 rs2584916
dbSNP Clinvar 		62554814 976.77 A G PASS 0/1 79 SPLICE_SITE_REGION LOW None 0.13658 0.13660 0.10215 None None None None None None TAF6L|0.120397009|47.39%,TMEM223|0.004713586|86.21%
View 7341maas0357_annotated 4 rs1757935
dbSNP Clinvar 		130023759 1251.77 A T PASS 0/1 106 SPLICE_SITE_REGION LOW None 0.68271 0.68270 0.31301 None None None None None None C4orf33|0.075968961|56.1%
View 7341maas0357_annotated 10 rs11597439
dbSNP Clinvar 		104184953 2689.77 C G PASS 1/1 87 SPLICE_SITE_REGION LOW None 0.28435 0.28430 0.27606 None None None None None None CUEDC2|0.159087985|41.71%
View 7341maas0357_annotated 11 rs1263505
dbSNP Clinvar 		77811990 2834.77 T C PASS 1/1 82 SPLICE_SITE_REGION LOW None 0.83267 0.83270 0.11961 None None None None None None ALG8|0.271828489|29.77%
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