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 CHR:

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SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
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FREQUENCIES

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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

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+ Genes 1

Genes:
GAA,

+ Genes associated with diseases 1

Genes at Omim

GAA,
GAA Glycogen storage disease II, 232300 (3)

Genes at Clinical Genomics Database

GAA,
GAA Glycogen storage disease II

Genes at HGMD

Summary

Number of Variants: 8
Number of Genes: 1

Export to: CSV
  • Page 1 of 1

GAA
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 fpd-aix-mes-312-12 17 rs1042395
dbSNP Clinvar 		78079669 8887.0 G A PASS 0/1 77 NON_SYNONYMOUS_CODING MODERATE None 0.60244 0.60240 0.32759 0.27 0.02 None None None None None None GAA|0.017886334|75.35%
View fpd-aix-mes-312-12 17 rs1042393
dbSNP Clinvar 		78079597 11977.0 A G PASS 0/1 84 NON_SYNONYMOUS_CODING MODERATE None 0.60084 0.60080 0.32746 0.99 0.00 None None None None None None GAA|0.017886334|75.35%
View fpd-aix-mes-312-12 17 rs142626724
dbSNP Clinvar 		78081515 432.0 G A PASS 0/1 22 SYNONYMOUS_CODING LOW None 0.00240 0.00240 0.00854 None None None None None None GAA|0.017886334|75.35%
View fpd-aix-mes-312-12 17 rs1800304
dbSNP Clinvar 		78082504 9116.0 G A PASS 0/1 73 SYNONYMOUS_CODING LOW None 0.60284 0.60280 0.32923 None None None None None None GAA|0.017886334|75.35%
View fpd-aix-mes-312-12 17 rs1042396
dbSNP Clinvar 		78084769 2343.0 G A PASS 0/1 48 SYNONYMOUS_CODING LOW None 0.15955 0.15950 0.20937 None None None None None None GAA|0.017886334|75.35%
View fpd-aix-mes-312-12 17 rs1126690
dbSNP Clinvar 		78091405 9953.0 G A PASS 0/1 79 NON_SYNONYMOUS_CODING MODERATE None 0.71186 0.71190 0.26681 0.18 0.00 None None None None None None GAA|0.017886334|75.35%
View fpd-aix-mes-312-12 17 rs1042397
dbSNP Clinvar 		78092063 10463.0 G A PASS 0/1 77 SYNONYMOUS_CODING LOW None 0.50939 0.50940 0.39520 None None None None None None GAA|0.017886334|75.35%
View fpd-aix-mes-312-12 17 rs1800300
dbSNP Clinvar 		78078709 9696.0 T C PASS 0/1 51 SYNONYMOUS_CODING LOW None 0.71446 0.71450 0.26842 None None None None None None GAA|0.017886334|75.35%
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