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 CHR:

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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

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+ Genes 1

Genes:
SSC5D,

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 14
Number of Genes: 1

Export to: CSV
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SSC5D
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 94533-0209701724_ms_onbait 19 rs4801305
dbSNP Clinvar 		56002329 228598.15 C T PASS 0/1 41 SYNONYMOUS_CODING LOW None 0.06430 0.06430 0.04711 None None None None None None SSC5D|0.005210209|85.56%
View 94533-0209701724_ms_onbait 19 rs61107130
dbSNP Clinvar 		56011915 673518.69 G A PASS 0/1 66 SYNONYMOUS_CODING LOW None 0.18411 0.18410 0.11454 None None None None None None SSC5D|0.005210209|85.56%
View 94533-0209701724_ms_onbait 19 rs671542
dbSNP Clinvar 		56024519 1787584.2 T C PASS 1/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.97125 0.97120 0.00110 1.00 0.00 None None None None None None SSC5D|0.005210209|85.56%
View 94533-0209701724_ms_onbait 19 rs77400028
dbSNP Clinvar 		56029188 704403.19 C G PASS 0/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.15835 0.15830 0.38 0.10 None None None None None None SSC5D|0.005210209|85.56%
View 94533-0209701724_ms_onbait 19 rs76172483
dbSNP Clinvar 		56029191 711622.42 C T PASS 0/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.15915 0.15910 0.09 0.51 None None None None None None SSC5D|0.005210209|85.56%
View 94533-0209701724_ms_onbait 19 rs74585733
dbSNP Clinvar 		56029201 666757.23 C A PASS 0/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.15735 0.15730 0.69 0.00 None None None None None None SSC5D|0.005210209|85.56%
View 94533-0209701724_ms_onbait 19 rs4801331
dbSNP Clinvar 		56029465 6198911.46 G A PASS 1/1 43 NON_SYNONYMOUS_CODING MODERATE None 0.96586 0.96590 0.00613 0.25 0.00 None None None None None None SSC5D|0.005210209|85.56%
View 94533-0209701724_ms_onbait 19 rs111456686
dbSNP Clinvar 		56029519 574696.81 C T PASS 0/1 19 SYNONYMOUS_CODING LOW None 0.14537 0.14540 0.11126 None None None None None None SSC5D|0.005210209|85.56%
View 94533-0209701724_ms_onbait 19 rs113619253
dbSNP Clinvar 		56029523 591844.08 C T PASS 0/1 19 NON_SYNONYMOUS_CODING MODERATE None 0.14537 0.14540 0.11432 1.00 0.00 None None None None None None SSC5D|0.005210209|85.56%
View 94533-0209701724_ms_onbait 19 rs114559746
dbSNP Clinvar 		56029543 377322.09 C T PASS 0/1 17 SYNONYMOUS_CODING LOW None None None None None None None SSC5D|0.005210209|85.56%
View 94533-0209701724_ms_onbait 19 rs754491504
dbSNP Clinvar 		56029552 519446.88 G GA... PASS 0/1 22 CODON_INSERTION MODERATE None None None None None None None SSC5D|0.005210209|85.56%
View 94533-0209701724_ms_onbait 19 . 56029559 560766.08 GA... GA... PASS 0/1 25 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None SSC5D|0.005210209|85.56%
View 94533-0209701724_ms_onbait 19 rs150781976,rs71181782,rs35104581
dbSNP Clinvar 		56029616 3549619.14 C CCCA PASS 1/1 88 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.38998 0.39000 0.31317 None None None None None None SSC5D|0.005210209|85.56%
View 94533-0209701724_ms_onbait 19 rs745919238
dbSNP Clinvar 		56029983 612.9 A C PASS 0/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.11 0.00 None None None None None None SSC5D|0.005210209|85.56%
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