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 GROUPS:

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MUTATION TYPE:
 CHR:

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VARIANT EFFECT FUNCTIONAL CLASS IMPACT
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EXCLUDE VARIANTS AT VARISNP 		READ DEPTH:

QUAL:
VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
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SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP 		ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE 		POLYPHEN2 SCORE

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CADD

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EXCLUDE VARIANTS WITHOUT M-CAP SCORE
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+ Genes 1

Genes:
MAP2K3,

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 19
Number of Genes: 1

Export to: CSV
  • Page 1 of 1

MAP2K3
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 046_tsvc_variants 17 rs33911218
dbSNP Clinvar 		21202191 249.6 C A PASS 0/1 149 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.00020 0.00020 0.06 0.33 None None None None None None MAP2K3|0.4379498|18.79%
View 046_tsvc_variants 17 rs55736474
dbSNP Clinvar 		21215537 290.03 C A PASS 0/1 117 SYNONYMOUS_CODING LOW None 0.00220 0.00220 None None None None None None MAP2K3|0.4379498|18.79%
View 046_tsvc_variants 17 rs56369732
dbSNP Clinvar 		21215552 311.6 C T PASS 0/1 106 SYNONYMOUS_CODING LOW None None None None None None None MAP2K3|0.4379498|18.79%
View 046_tsvc_variants 17 rs35206134
dbSNP Clinvar 		21215557 276.84 G A PASS 0/1 102 NON_SYNONYMOUS_CODING MODERATE None 0.12 0.84 None None None None None None MAP2K3|0.4379498|18.79%
View 046_tsvc_variants 17 rs1657688
dbSNP Clinvar 		21216846 439.49 G C PASS 0/1 326 SYNONYMOUS_CODING LOW None None None None None None None MAP2K3|0.4379498|18.79%
View 046_tsvc_variants 17 rs2363198
dbSNP Clinvar 		21217513 562.43 G A PASS 0/1 324 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.79 None None None None None None MAP2K3|0.4379498|18.79%
View 046_tsvc_variants 17 rs36047035
dbSNP Clinvar 		21202237 346.66 G C PASS 0/1 138 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.00020 0.00020 0.12 0.03 None None None None None None MAP2K3|0.4379498|18.79%
View 046_tsvc_variants 17 rs34105301
dbSNP Clinvar 		21203893 619.36 T C PASS 0/1 250 NON_SYNONYMOUS_CODING MODERATE None 0.10 0.14 None None None None None None MAP2K3|0.4379498|18.79%
View 046_tsvc_variants 17 rs62057672
dbSNP Clinvar 		21203934 734.56 G A PASS 0/1 268 SYNONYMOUS_CODING LOW None None None None None None None MAP2K3|0.4379498|18.79%
View 046_tsvc_variants 17 rs62057673
dbSNP Clinvar 		21203949 749.89 C T PASS 0/1 271 SYNONYMOUS_CODING LOW None None None None None None None MAP2K3|0.4379498|18.79%
View 046_tsvc_variants 17 rs56067280
dbSNP Clinvar 		21204187 589.07 G T PASS 0/1 344 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.01 0.80 None None None None None None MAP2K3|0.4379498|18.79%
View 046_tsvc_variants 17 rs56216806
dbSNP Clinvar 		21204192 566.21 C T PASS 0/1 345 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.99 None None None None None None MAP2K3|0.4379498|18.79%
View 046_tsvc_variants 17 rs55796947
dbSNP Clinvar 		21204210 566.59 C T PASS 0/1 349 STOP_GAINED HIGH None None None None None None None MAP2K3|0.4379498|18.79%
View 046_tsvc_variants 17 rs56166328
dbSNP Clinvar 		21204257 554.67 G A PASS 0/1 341 SYNONYMOUS_CODING LOW None None None None None None None MAP2K3|0.4379498|18.79%
View 046_tsvc_variants 17 rs2230435
dbSNP Clinvar 		21204266 490.1 T C PASS 0/1 335 SYNONYMOUS_CODING LOW None 0.30691 0.30690 0.47578 None None None None None None MAP2K3|0.4379498|18.79%
View 046_tsvc_variants 17 rs62057721
dbSNP Clinvar 		21205460 866.17 C T PASS 0/1 237 SYNONYMOUS_CODING LOW None None None None None None None MAP2K3|0.4379498|18.79%
View 046_tsvc_variants 17 rs2230436
dbSNP Clinvar 		21207844 143.36 C T PASS 0/1 19 SYNONYMOUS_CODING LOW None None None None None None None MAP2K3|0.4379498|18.79%
View 046_tsvc_variants 17 rs1657695
dbSNP Clinvar 		21208413 238.6 C T PASS 0/1 393 SYNONYMOUS_CODING LOW None None None None None None None MAP2K3|0.4379498|18.79%
View 046_tsvc_variants 17 rs55935757
dbSNP Clinvar 		21215483 294.45 C T PASS 0/1 125 SYNONYMOUS_CODING LOW None 0.00799 0.00799 None None None None None None MAP2K3|0.4379498|18.79%
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