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 CHR:

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VARIANT EFFECT FUNCTIONAL CLASS IMPACT
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VARIANTS PER GENE:
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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

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+ Genes 1

Genes:
COL12A1,

+ Genes associated with diseases 1

Genes at Omim

COL12A1,
COL12A1 ?Ullrich congenital muscular dystrophy 2, 616470 (3)
Bethlem myopathy 2, 616471 (3)

Genes at Clinical Genomics Database

COL12A1,
COL12A1 Bethlem myopathy 2
Ullrich congenital muscular dystrophy 2

Genes at HGMD

Summary

Number of Variants: 15
Number of Genes: 1

Export to: CSV
  • Page 1 of 1

COL12A1
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 4450_s11 6 rs594012
dbSNP Clinvar 		75841722 100.0 A T PASS 1/1 29 SYNONYMOUS_CODING LOW None 0.88618 0.88620 0.11774 None None None None None None COL12A1|0.494206072|16.13%
View 4450_s11 6 rs970547
dbSNP Clinvar 		75797302 100.0 C T PASS 1/1 17 NON_SYNONYMOUS_CODING MODERATE None 0.71186 0.71190 0.25525 0.02 1.00 None None None None None None COL12A1|0.494206072|16.13%
View 4450_s11 6 rs240736
dbSNP Clinvar 		75848181 100.0 A G PASS 0/1 26 NON_SYNONYMOUS_CODING MODERATE None 0.26498 0.26500 0.29199 0.36 0.00 None None None None None None COL12A1|0.494206072|16.13%
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 4450_s11 6 rs34433354,rs879053777,rs397777824
dbSNP Clinvar 		75890933 100.0 T TA PASS 0/1 62 None None None 0.54070 None None None None None None COL12A1|0.494206072|16.13%
View 4450_s11 6 rs184766
dbSNP Clinvar 		75857907 95.0 C T PASS 0/1 15 None None None 0.35463 0.35460 None None None None None None COL12A1|0.494206072|16.13%
View 4450_s11 6 rs240734
dbSNP Clinvar 		75847036 100.0 G A PASS 0/1 30 None None None 0.38119 0.38120 None None None None None None COL12A1|0.494206072|16.13%
View 4450_s11 6 rs1332020
dbSNP Clinvar 		75844600 100.0 C T PASS 0/1 31 None None None 0.46086 0.46090 0.41461 None None None None None None COL12A1|0.494206072|16.13%
View 4450_s11 6 rs189714891
dbSNP Clinvar 		75839963 100.0 A T PASS 0/1 26 None None None 0.00499 0.00499 0.00042 None None None None None None COL12A1|0.494206072|16.13%
View 4450_s11 6 rs240722
dbSNP Clinvar 		75833876 100.0 C A PASS 1/1 27 None None None 0.76378 0.76380 None None None None None None COL12A1|0.494206072|16.13%
View 4450_s11 6 rs499018
dbSNP Clinvar 		75830974 100.0 G C PASS 1/1 27 None None None 0.61282 0.61280 0.34062 None None None None None None COL12A1|0.494206072|16.13%
View 4450_s11 6 rs620129
dbSNP Clinvar 		75830847 100.0 G T PASS 1/1 27 None None None 0.75699 0.75700 None None None None None None COL12A1|0.494206072|16.13%
View 4450_s11 6 rs3752545
dbSNP Clinvar 		112024262 100.0 A C PASS 0/1 51 None None None 0.17392 0.17390 0.12556 None None None None None None FYN|0.993416693|0.92%
View 4450_s11 6 rs796808205,rs754750553,rs61611291,rs796913685,rs398001992
dbSNP Clinvar 		75796364 71.0 GTA G PASS 0/1 10 None None None None None None None None None COL12A1|0.494206072|16.13%
View 4450_s11 6 rs3730353
dbSNP Clinvar 		111995666 100.0 A G PASS 0/1 13 None None None 0.20907 0.20910 0.19960 None None None None None None FYN|0.993416693|0.92%
View 4450_s11 6 rs743003
dbSNP Clinvar 		75901292 100.0 C T PASS 1/1 31 None None None 0.81510 0.81510 None None None None None None COL12A1|0.494206072|16.13%
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