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 CHR:

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FREQUENCIES

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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

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+ Genes 1

Genes:
ABCC6,

+ Genes associated with diseases 1

Genes at Omim

ABCC6,
ABCC6 Arterial calcification, generalized, of infancy, 2, 614473 (3)
Pseudoxanthoma elasticum, 264800 (3)
Pseudoxanthoma elasticum, forme fruste, 177850 (3)

Genes at Clinical Genomics Database

ABCC6,
ABCC6 Pseudoxanthoma elasticum

Genes at HGMD

Summary

Number of Variants: 2
Number of Genes: 1

Export to: CSV
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ABCC6
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 12107_s6 16 rs9930886
dbSNP Clinvar 		16291983 100.0 A G PASS 0/1 67 SYNONYMOUS_CODING LOW None 0.28275 0.28270 0.31330 None None None None None None ABCC6|0.022547171|72.9%
View 12107_s6 16 rs7500834
dbSNP Clinvar 		16272670 100.0 T C PASS 1/1 97 SYNONYMOUS_CODING LOW None 0.96446 0.96450 0.03548 None None None None None None ABCC6|0.022547171|72.9%
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