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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

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+ Genes 7

+ Genes associated with diseases 1

Genes at Omim

ADH1C,
ADH1C {Alcohol dependence, protection against}, 103780 (3)
{Parkinson disease, susceptibility to}, 168600 (3)

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 7
Number of Genes: 7

Export to: CSV
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ADH1C
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 muestra1_s1 4 rs283413
dbSNP Clinvar 		100268190 1160.82 A C PASS 1/1 48 STOP_LOST HIGH None 0.99281 0.99280 0.00839 None None None None None None None

CD177
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 muestra1_s1 19 rs201821720
dbSNP Clinvar 		43865321 512.89 T A SB 1/1 27 STOP_LOST HIGH None 0.71286 0.71290 None None None None None None CD177|0.000416107|98.86%

GBA3
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 muestra1_s1 4 rs358231
dbSNP Clinvar 		22820504 410.12 A T PASS 0/1 59 STOP_LOST HIGH None 0.89157 0.89160 0.11608 None None None None None None None

OAS2
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 muestra1_s1 12 rs15895
dbSNP Clinvar 		113448288 2313.66 A G PASS 1/1 71 STOP_LOST HIGH None 0.86442 0.86440 0.25027 None None None None None None OAS2|0.001433626|93.17%

SERPINB11
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 muestra1_s1 18 rs4940595
dbSNP Clinvar 		61379838 982.11 T G PASS 1/1 36 STOP_LOST HIGH None 0.34001 None None None None None None SERPINB11|0.015027277|77.1%

TAAR9
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 muestra1_s1 6 rs2842899
dbSNP Clinvar 		132859609 4249.63 T A PASS 1/1 129 STOP_LOST HIGH None 0.80571 0.80570 0.23857 None None None None None None None

TAS2R19
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 muestra1_s1 12 rs79475879
dbSNP Clinvar 		11174271 459.67 T C PASS 0/1 103 STOP_LOST HIGH None None None None None None None PRR4|0.000493683|98.46%,TAS2R14|0.00022192|99.72%,TAS2R19|0.000335865|99.27%
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