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 CHR:

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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

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+ Genes 8

+ Genes associated with diseases 1

Genes at Omim

COG2,
COG2 ?Congenital disorder of glycosylation, type IIq, 617395 (3)

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 8
Number of Genes: 8

Export to: CSV
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A4GNT
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 udp2570_axeq_1_hs37d5_remdup-uniqmap 3 rs2170309
dbSNP Clinvar 		137843106 118.0 T C . 0/1 0 SYNONYMOUS_STOP LOW SILENT 0.65415 0.65420 0.33931 None None None None None None A4GNT|0.020635171|73.87%

C17orf72
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 udp2570_axeq_1_hs37d5_remdup-uniqmap 17 rs11079520
dbSNP Clinvar 		62079334 52.0 A G . 0/1 0 SYNONYMOUS_STOP LOW SILENT 0.24820 0.24820 None None None None None None PRR29|0.003440848|87.87%

C20orf166
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 udp2570_axeq_1_hs37d5_remdup-uniqmap 20 rs6143064
dbSNP Clinvar 		61167883 65.0 G A . 0/1 0 SYNONYMOUS_STOP LOW SILENT 0.26358 0.26360 0.29365 None None None None None None MIR1-1HG|0.000293671|99.44%

COG2
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 udp2570_axeq_1_hs37d5_remdup-uniqmap 1 rs1051038
dbSNP Clinvar 		230829139 149.0 A G . 1/1 0 SYNONYMOUS_STOP LOW SILENT 0.34465 0.34460 0.21359 None None None None None None COG2|0.130135468|45.85%

IP6K2
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 udp2570_axeq_1_hs37d5_remdup-uniqmap 3 rs1048940
dbSNP Clinvar 		48725707 105.0 C T . 0/1 0 SYNONYMOUS_STOP LOW SILENT 0.02995 0.02995 0.06958 None None None None None None IP6K2|0.344637557|24.53%

NUSAP1
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 udp2570_axeq_1_hs37d5_remdup-uniqmap 15 rs7168431
dbSNP Clinvar 		41672384 222.0 A G . 1/1 0 SYNONYMOUS_STOP LOW SILENT 0.11562 0.11560 0.19375 None None None None None None NUSAP1|0.064166774|58.84%

PAQR6
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 udp2570_axeq_1_hs37d5_remdup-uniqmap 1 rs7513351
dbSNP Clinvar 		156213921 173.0 C T . 0/1 0 SYNONYMOUS_STOP LOW SILENT 0.21925 0.21920 0.16231 0.00 0.02 None None None None None None PAQR6|0.040541685|65.62%

UPK2
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 udp2570_axeq_1_hs37d5_remdup-uniqmap 11 rs623500
dbSNP Clinvar 		118828942 134.0 A G . 1/1 0 SYNONYMOUS_STOP LOW SILENT 0.24082 0.24080 0.23464 None None None None None None UPK2|0.095892889|51.96%
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