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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

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+ Genes 6

+ Genes associated with diseases 1

Genes at Omim

COL13A1,
COL13A1 Myasthenic syndrome, congenital, 19, 616720 (3)

Genes at Clinical Genomics Database

COL13A1,
COL13A1 Myasthenic syndrome, congenital, 19

Genes at HGMD

Summary

Number of Variants: 15
Number of Genes: 6

Export to: CSV
  • Page 1 of 1

C10orf35
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 21_s21 genome 10 rs12020
dbSNP Clinvar 		71392557 14.92 C T LowGQX;LowGQ 1/1 2 SYNONYMOUS_CODING LOW None 0.70847 0.70850 0.34962 None None None None None None None

COL13A1
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 21_s21 genome 10 . 71686856 9.3 T C LowGQX 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.05 0.56 None None None None None None COL13A1|0.288371084|28.5%

DPYSL4
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 21_s21 genome 10 rs2247705
dbSNP Clinvar 		134013990 14.9 G A LowGQX;LowGQ 1/1 2 SYNONYMOUS_CODING LOW None 0.85463 0.85460 0.18038 None None None None None None DPYSL4|0.035303952|67.4%

KNDC1
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 21_s21 genome 10 . 135032432 6.77 A T LowGQX 0/1 6 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.98 None None None None None None KNDC1|0.003991691|87.04%

PALD1
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 21_s21 genome 10 rs12764399
dbSNP Clinvar 		72293713 54.17 C T LowGQX;LowGQ 1/1 3 SYNONYMOUS_CODING LOW None 0.08427 0.08427 0.12548 None None None None None None PALD1|0.038632473|66.24%

RRP12
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 21_s21 genome 10 . 99141178 5.06 G T LowGQX;LowGQ 1/1 1 SYNONYMOUS_CODING LOW None None None None None None None RRP12|0.177139919|39.41%
View 21_s21 genome 10 . 99130293 7.08 A T LowGQX;LowGQ 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.72 None None None None None None RRP12|0.177139919|39.41%
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 21_s21 genome 10 . 135491091 9.3 T A LowGQX;LowGQ 0/1 4 None None None None None None None None None None
View 21_s21 genome 10 . 135491080 9.3 G T LowGQX 0/1 4 None None None None None None None None None None
View 21_s21 genome 10 rs779906704
dbSNP Clinvar 		135491107 10.43 G A LowGQX;LowGQ 1/1 1 None None None None None None None None None None
View 21_s21 genome 10 rs4751503
dbSNP Clinvar 		129534864 14.92 A C LowGQX;LowGQ 1/1 2 None None None 0.95986 0.95990 None None None None None None None
View 21_s21 genome 10 rs200279600
dbSNP Clinvar 		135491083 47.86 G T LowGQX;LowGQ 1/1 4 None None None 0.49221 0.49220 None None None None None None None
View 21_s21 genome 10 rs937680957
dbSNP Clinvar 		135491049 9.29 G A LowGQX 0/1 6 None None None None None None None None None None
View 21_s21 genome 10 rs770494949
dbSNP Clinvar 		135491067 9.3 C A LowGQX 0/1 4 None None None None None None None None None None
View 21_s21 genome 10 rs78612283
dbSNP Clinvar 		135491077 9.3 G A LowGQX 0/1 4 None None None None None None None None None None
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