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 CHR:

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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

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+ Genes 1

Genes:
SGCG,

+ Genes associated with diseases 1

Genes at Omim

SGCG,
SGCG Muscular dystrophy, limb-girdle, autosomal recessive 5, 253700 (3)

Genes at Clinical Genomics Database

SGCG,
SGCG Muscular dystrophy, limb-girdle, type 2C

Genes at HGMD

Summary

Number of Variants: 13
Number of Genes: 1

Export to: CSV
  • Page 1 of 1

SGCG
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 annovar hg19_multianno_pass 13 rs1800354
dbSNP Clinvar 		23898664 579.77 A G . 1/1 19 NON_SYNONYMOUS_CODING MODERATE None 0.87780 0.87780 0.17892 1.00 0.00 None None None None None None SGCG|0.078287508|55.59%
View annovar hg19_multianno_pass 13 rs1800351
dbSNP Clinvar 		23824783 830.77 T G . 0/1 58 SYNONYMOUS_CODING LOW None 0.52476 0.52480 0.47117 None None None None None None SGCG|0.078287508|55.59%
View annovar hg19_multianno_pass 13 rs1800353
dbSNP Clinvar 		23898509 646.77 T C . 1/1 22 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.62979 0.62980 0.42380 None None None None None None SGCG|0.078287508|55.59%
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 annovar hg19_multianno_pass 13 rs9510616
dbSNP Clinvar 		23765681 272.78 G A . 1/1 8 None None None 0.35823 0.35820 None None None None None None SGCG|0.078287508|55.59%
View annovar hg19_multianno_pass 13 rs34008986,rs869119974
dbSNP Clinvar 		23765715 227.77 A AT . 1/1 7 None None None 0.36042 0.36040 None None None None None None SGCG|0.078287508|55.59%
View annovar hg19_multianno_pass 13 rs4769246
dbSNP Clinvar 		23808914 194.77 A C . 0/1 34 None None None 0.15974 0.15970 None None None None None None SGCG|0.078287508|55.59%
View annovar hg19_multianno_pass 13 rs17078517
dbSNP Clinvar 		23808959 80.77 C T . 0/1 18 None None None 0.05132 0.05132 None None None None None None SGCG|0.078287508|55.59%
View annovar hg19_multianno_pass 13 rs9510700
dbSNP Clinvar 		23898454 482.77 C T . 1/1 16 None None None 0.79912 0.79910 None None None None None None SGCG|0.078287508|55.59%
View annovar hg19_multianno_pass 13 rs3751371
dbSNP Clinvar 		23898934 374.77 G A . 0/1 27 None None None 0.35024 0.35020 None None None None None None SGCG|0.078287508|55.59%
View annovar hg19_multianno_pass 13 rs641583
dbSNP Clinvar 		23754908 78.78 T C . 0/1 4 None None None 0.59605 0.59600 None None None None None None None
View annovar hg19_multianno_pass 13 rs3829352
dbSNP Clinvar 		23898975 537.77 T C . 0/1 43 None None None 0.34804 0.34800 None None None None None None SGCG|0.078287508|55.59%
View annovar hg19_multianno_pass 13 rs8181845
dbSNP Clinvar 		23765541 1585.77 C T . 1/1 49 None None None 0.40395 0.40400 None None None None None None SGCG|0.078287508|55.59%
View annovar hg19_multianno_pass 13 rs8181836
dbSNP Clinvar 		23765546 1430.77 G A . 1/1 46 None None None 0.40435 0.40440 None None None None None None SGCG|0.078287508|55.59%
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