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 CHR:

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EXCLUDE VARIANTS AT VARISNP 		READ DEPTH:

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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

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EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

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+ Genes 1

Genes:
SH3TC2,

+ Genes associated with diseases 1

Genes at Omim

SH3TC2,
SH3TC2 Charcot-Marie-Tooth disease, type 4C, 601596 (3)
Mononeuropathy of the median nerve, mild, 613353 (3)

Genes at Clinical Genomics Database

SH3TC2,
SH3TC2 Charcot-Marie-Tooth disease, type 4C
Mononeuropathy of the median nerve, mild

Genes at HGMD

Summary

Number of Variants: 2
Number of Genes: 1

Export to: CSV
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SH3TC2
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 013 final 5 rs1432793
dbSNP Clinvar 		148408101 2651.77 A G PASS 0/1 186 SYNONYMOUS_CODING LOW SILENT 0.43710 0.43710 0.48470 None None None None None None SH3TC2|0.11815413|47.72%
View 013 final 5 rs1432794
dbSNP Clinvar 		148407708 5373.77 A C PASS 1/1 158 SYNONYMOUS_CODING LOW SILENT 0.99062 0.99060 0.02230 None None None None None None SH3TC2|0.11815413|47.72%
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