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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

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+ Genes 1

Genes:
COL4A5,

+ Genes associated with diseases 1

Genes at Omim

COL4A5,
COL4A5 Alport syndrome 1, X-linked, 301050 (3)

Genes at Clinical Genomics Database

COL4A5,
COL4A5 Alport syndrome, X-linked

Genes at HGMD

Summary

Number of Variants: 12
Number of Genes: 1

Export to: CSV
  • Page 1 of 1

COL4A5
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 6306_s1 X rs61746140
dbSNP Clinvar 		107929337 100.0 C T PASS 1/1 28 SYNONYMOUS_CODING LOW None None None None None None None COL4A5|0.684108995|8.97%
View 6306_s1 X rs142929745
dbSNP Clinvar 		107868941 100.0 A G PASS 1/1 20 NON_SYNONYMOUS_CODING MODERATE None 0.00053 0.00053 0.00047 0.02 0.38 None None None None None None COL4A5|0.684108995|8.97%
View 6306_s1 X rs3747408
dbSNP Clinvar 		107850076 100.0 G A PASS 1/1 27 SYNONYMOUS_CODING LOW None 0.14887 0.14890 0.12184 None None None None None None COL4A5|0.684108995|8.97%
View 6306_s1 X rs7884085
dbSNP Clinvar 		107845128 100.0 T C PASS 1/1 44 SYNONYMOUS_CODING LOW None 0.14993 0.14990 0.11964 None None None None None None COL4A5|0.684108995|8.97%
View 6306_s1 X rs2272946
dbSNP Clinvar 		107834453 100.0 T G PASS 1/1 11 NON_SYNONYMOUS_CODING MODERATE None 0.14940 0.14940 0.12157 0.61 0.01 None None None None None None COL4A5|0.684108995|8.97%
View 6306_s1 X rs2272945
dbSNP Clinvar 		107829907 100.0 G C PASS 1/1 19 SYNONYMOUS_CODING LOW None 0.15046 0.15050 0.12449 None None None None None None COL4A5|0.684108995|8.97%
View 6306_s1 X rs2273051
dbSNP Clinvar 		107909784 100.0 A G PASS 1/1 26 SYNONYMOUS_CODING LOW None 0.17801 0.17800 0.16056 None None None None None None COL4A5|0.684108995|8.97%
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 6306_s1 X rs28465565
dbSNP Clinvar 		107909866 100.0 T C PASS 1/1 26 None None None 0.17775 0.17770 0.15668 None None None None None None COL4A5|0.684108995|8.97%
View 6306_s1 X rs10635053,rs3215506
dbSNP Clinvar 		107824048 100.0 T TCTTA PASS 1/1 10 None None None 0.14887 0.14890 None None None None None None COL4A5|0.684108995|8.97%
View 6306_s1 X rs2294543
dbSNP Clinvar 		107824005 100.0 A G PASS 1/1 10 None None None 0.14914 0.14910 0.12156 None None None None None None COL4A5|0.684108995|8.97%
View 6306_s1 X rs2179674
dbSNP Clinvar 		107858304 100.0 T G PASS 1/1 12 None None None 0.14887 0.14890 0.12053 None None None None None None COL4A5|0.684108995|8.97%
View 6306_s1 X rs73526282
dbSNP Clinvar 		107814732 100.0 G T PASS 1/1 24 None None None 0.12424 0.12420 0.11201 None None None None None None COL4A5|0.684108995|8.97%
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