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 CHR:

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EXCLUDE VARIANTS AT VARISNP 		READ DEPTH:

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SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

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+ Genes 1

Genes:
ALDH3A2,

+ 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: 7
Number of Genes: 1

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 p767-full_variant_table 17 rs7216
dbSNP Clinvar 		19578873 182.0 A T PASS 0/1 40 SPLICE_SITE_REGION LOW 0.67851 0.67850 0.44933 None None None None None None ALDH3A2|0.089181599|53.41%
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 p767-full_variant_table 22 rs737868
dbSNP Clinvar 		19747082 406.0 G C off_target 0/1 30 SPLICE_SITE_REGION LOW 0.62141 0.62140 None None None None None None TBX1|0.837458407|4.92%
View p767-full_variant_table 4 rs3775296
dbSNP Clinvar 		186997767 1085.0 C A off_target 1/1 42 SPLICE_SITE_REGION LOW 0.18171 0.18170 0.18307 None None None None None None TLR3|0.269915833|29.89%
View p767-full_variant_table 17 rs2243093
dbSNP Clinvar 		4835895 517.0 T C PASS 0/1 68 SPLICE_SITE_REGION LOW 0.18750 0.18750 0.14990 None None None None None None GP1BA|0.002123985|90.66%
View p767-full_variant_table 11 rs1263505
dbSNP Clinvar 		77811990 892.0 T C off_target 1/1 34 SPLICE_SITE_REGION LOW 0.83267 0.83270 0.11961 None None None None None None ALG8|0.271828489|29.77%
View p767-full_variant_table 7 rs1269634
dbSNP Clinvar 		107880612 455.0 A G off_target 0/1 42 SPLICE_SITE_REGION LOW 0.45168 0.45170 None None None None None None NRCAM|0.765632697|6.74%
View p767-full_variant_table 4 rs2070951
dbSNP Clinvar 		149358014 363.0 G C PASS 0/1 47 SPLICE_SITE_REGION LOW 0.50080 0.50080 0.39743 None None None None None None NR3C2|0.850524024|4.63%
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